Year 2019,
Volume: 5 Issue: 1, 21 - 31, 01.01.2019
Elif Nazlı Serin Ataş
Ramazan Çetinkaya
Funda Sarı
Abstract
Kronik böbrek hastalığı etiyolojisinde diyabetes mellitus ve hipertansiyon başta olmak üzere birçok neden vardır. Etiyolojide yer alan nadir görülen nedenlerden biri de Fabry hastalığıdır. Fabry hastalığı farkındalığı düşük olması, nadir görülmesi ve çeşitli klinik varyantları olması nedeniyle sıklıkla tanıda gözden kaçmaktadır. Hastalık X’e bağlı resesif geçtiği için geni taşıyan tüm erkekler etkilenir. Kadınlarda iyonizasyon olması nedeniyle kadınların hastalıktan etkilenmesi mozaizm gösterir. Fabry hastalığı tespitinde enzim aktivitesi, gen analiz değerlendirilmesi ve biriken metabolitlerin kanda veya dokularda ölçümü kullanılır. Tedavisinde enzim replasman tedavisi ve destek tedavi uygulanır. Hastalığın kliniğe yansıması farklı olduğundan klinisyen tanıyı gözden kaçırmamak için dikkatli olmalıdır
References
- 1. Mcphee SJ, Papadakis M. Current Medical Diagnosis and
Treatment 2016. Müftüoğlu E (ed). 54. baskı. Ankara:
Akademisyen Kitabevi, 2016: 890-929.
- 2. Germain D. Fabry disease. Orphanet J Rare Disease
2010;5:30.
- 3. Schiller PI, Itin PH. Angiokeratomas: An update.
Dermatology 1996; 193(4):275-82.
- 4. Gaggl M, El-Hadi S, Aigner C. Sunder-Plassmann G.
The renal history of fabry disease. G Ital Nefrol 2016; 33
Suppl 66:S66.14.
- 5. De Groot WP. Angiokeratoma corporis diffusum Fabry.
Amsterdam Dermatologica 1968; 136(5):432-3.
- 6. Kılıç M. Fabry hastalığının tarihçesi. Türkiye Klinikleri J
Pediatr 2012; 21 Suppl 1:1-6.
- 7. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML.
Differential assay for lysosomal alpha-galactosidases in
human tissues and its application to Fabry’s disease. Clin
Chim Acta 1981; 112(2):247-51.
- 8. Schiffmann R, Murray GJ, Treco D, Daniel P, SellosMoura M, Myers M,Quirk M J, Zirzow G C, Borowski M,
Loveday K, Anderson T, Gillespie F, Oliver K L, Jeffries
N O, Doo E, Liang T J, Kreps C, Frei K, Crutchfield K,
Selden R F, Brady RO. Infusion of alpha-galactosidase
A reduces tissue globotriaosylceramide storage in patients
with Fabry disease. Proc Natl Acad Sci USA 2000; 97(1):
365-70.
- 9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF.
Prevalence of lysosomal storage disorders, JAMA 1999;
281(3):249-54.
- 10. MacDermot KD, Holmes A, Miners AH. AndersonFabry disease: Clinical manifestations and impact of
disease in a cohort of 60 obligate carrier females. J Med
Genet 2001; 38(11):769-75.
- 11. Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang
CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao
CH, Cheng KH, Hsueh C, Niu DM. High incidence
of the cardiacvariant of Fabry disease revealed by
newbornscreening in the Taiwan Chinese population.
Circ Cardiovasc Genet 2009; 2(5):450-6.
- 12. Uçar SK. Fabry hastalığı (Ege Üniversitesi Tıp Fakültesi
tarama sonuçları). J LSD 2010; 2:35.
- 13. Barba-Romero MÁ, Rivera-Gallego A, Pintos-Morell
G; Spanish FOS-Study Group. Fabry disease in Spain:
description of Spanish patients and a comparison with other
European countries using data from the Fabry Outcome
Survey (FOS). Int J Clin Pract 2011; 65(8):903-10.
- 14. Tsuboi K, Suzuki S, Nagai M. Descriptive epidemiology
of Fabry disease among beneficiaries of the Specified
Disease Treatment Research Program in Japan. J
Epidemiol 2012; 22(4):370-4.
- 15. Burton BK, Charrow J, Hoganson GE, Waggoner D,
Tinkle B, Braddock SR, Schneider M, Grange DK,
Nash C, Shryock H, Barnett R, Shao R, Basheeruddin
K, Dizikes G. Newborn screening for lysosomal storage
disorders in illinois: The Initial 15-Month Experience. J
Pediatr 2017; 190:130-5.
- 16. Migeon BR. Females are Mosaics. X Inactivation and
Sex Differences in Disease, 1st ed, New York: Oxford
University Press, 2007; 259.
- 17. Maier EM, Osterrieder S, Whybra C, Ries M, Gal A,
Beck M, Roscher AA, Muntau AC. Disease manifestations
and X inactivation in heterozygous females with Fabry
disease. Acta Paediatr Suppl 2006; 95(451):30-8.
- 18. Chen Z, Ye W, Jiao S, Ding D, Long Z, Peng H, Peng Y,
Wang C, Pan Q, Xia K, Tang B, Jiang H. Diagnosis of a
pedigree with Fabry disease mimicking erythromelalgia:
The utility of next-generation sequencing in a precision
medicine perspective. Int J Clin Exp Med 2016;
9(8):16923-6.
- 19. El-Abbasi R, Singhal D, England JD. Fabry’s Disease. J
Neurol Sci 2014; 344:5-19.
- 20. Nagueh SF. Anderson-Fabry Disease and other lysosomal
storage disorders. Circulation 2014; 130(13):1081-90.
- 21. Cox TM. Biomarkers in lysosomal storage diseases:
A review. Acta Paediatr Suppl 2005; 94(447):39-42.
discussion 37-8.
- 22. Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ,
Johnson J,O Rourke E, Sims K, Walter G. Fabry Disease
Practice Guidelines: Recommendations of the National
Society of Genetic Counselors. J Genet Counsel 2013;
22(5):555-64.
- 23. Park JL, Shu L, Shayman JA. Differential involvement
of COX1 and COX2 in the vasculopathy associated
with the {alpha}-galactosidase A-knockout mouse. Am J
Physiol Heart Circ Physiol 2009; 296:1133-40.
- 24. Shen JS, Meng XL, Moore DF, Quirk JM, Shayman
JA, Schiffmann R, Kaneski CR. Globotriaosylceramide
induces oxidative stress and upregulates cell adhesion
molecule expression in Fabry disease endothelial cells.
Mol Genet Metab 2008; 95:163-8.
- 25. Chevrier M, Brakch N, Celine L, Genty D, Ramdani
Y, Moll S, Djavaheri-Mergny M, Brasse-Lagnel C,
Laquerriere A, Barbey F, Bekri S. Autophagosome
maturation is impaired in Fabry disease. Journal
Autophagy 2010; 6(5):589-99.
- 26. Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey
F, Geldenhuys L, West M, Ferluga D, Vujkovac B,
Howie AJ, Burns A, Reeve R, Waldek Stephen, Noël LH,
Grünfeld JP, Valbuena C, Oliveria JP, Müller J, Breunig
F, Zhang X, Warnock DG. Scoring system for renal
pathology in Fabry disease: Report of the International
Study Group of Fabry Nephropathy (ISGFN). Nephrol
Dial Transplant 2010; 25(7):2168-77.
- 27. Linhart A, Elliott PM. The heart in Anderson-Fabry
disease and other lysosomal storage disorders. Heart
2007; 93(4):528-35.
- 28. Sudarshan R, Vijayabala GS. Fabry Disease. Arşiv
Kaynak Tarama Dergisi 2013; 22(1):142-52.
- 29. Mauer M, Kopp JB, Schiffmann R. Clinical features and
diagnosis of Fabry disease. UpToDate. Massachusetts:
Wolters Kluwer Health, 2013.
- 30. Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy
findings in children and adolescents with Fabry disease
and minimal albuminuria. Am J Kidney Dis 2008; 51(5):
767-76.
- 31. Najafian B, Svarstad E, Bostad L, Gubler MC, Tøndel
C, Whitley C,Mauer M. Progressive podocyte injury and
globotriaosylceramide (GL-3) accumulation in young
patients with Fabry disease. Kidney Int 2011; 79:663-70
- 32. Oliveira JP. Staging of Fabry disease using renal biopsies.
Clin Ther 2007; 29 Suppl A: 15-6. Erişim adresi: https://
doi.org/10.1016/S0149-2918(07)80121-4.
- 33. Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain
DP, Linthorst GE, Serra AL, Maródi L, Mignani R,
Cianciaruso B, Vujkovac B, Lemay R, Johnson DB,
Waldek S, Warnock DG. Prognostic indicators of renal
disease progression in adults with Fabry disease: Natural
history data from the Fabry Registry. Clin J Am Soc
Nephrol 2010; 5(12):2220-8.
- 34. Trimarchi H, Canzonieri R, Schiel A, CostalesCollaguazo A, Politei J, Stern A, Paulero M, Rengel T,
Andrews J, Forrester M, Lombi M, Pomeranz V, Iriarte
R, Muryan A, Zotta E, Sanchez-Niño MD, Ortiz A.
Increased urinary CD80 excretion and podocyturia in
Fabry disease. J Transl Med 2016; 14:289.
- 35. Schiffmann R, Warnock DG, Banikazemi M, Bultas J,
Linthorst GE, Packman S, Sorensen SA, Wilcox WR,
Desnick RJ. Fabry disease: Progression of nephropathy,
and prevalence of cardiac and cerebrovascular events
before enzyme replacement therapy. Nephrol Dial
Transplant 2009; 24:2102-11.
- 36. Vedder AC, Linthorst GE, Van Breemen MJ, Groener
JEM, Bemelman FJ, Strijland A, Mannens M, Aerts G,
Hollak. The Dutch Fabry cohort: Diversity of clinical
manifestations and Gb3 levels. J Inherit Metab Dis 2007;
30(1):68-78.
- 37. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi
M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores
GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig
F, Wanner C, Warnock DG, Lemay RM, Germain DP;
Fabry Registry. Females with Fabry disease frequently
have major organ involvement: lessons from the Fabry
Registry. Mol Genet Metab 2008; 93:112-28.
- 38. Nowak A, Koch G, Huynh-Do U, Siegenthaler M, Marti
HP, Pfister M. Disease progression modeling to evaluate
the effects of enzyme replacement therapy on kidney
function in adult patients with the classic phenotype of
fabry disease. Kidney Blood Press Res 2017; 42(1):1-15.
- 39. Onishi A, Dyck PJ. Loss of small peripheral sensory
neurons in Fabry disease. Histologic and morphometric
evaluation of cutaneous nerves, spinal ganglia, and
posterior columns. Arch Neurol 1974; 31(2):120-7.
- 40. Ries M, Bettis KE, Choyke P, Kopp JB, Austin HA,
Brady RO, Schiffmann R. Parapelvic kidney cysts: A
distinguishing feature with high prevalence in Fabry
disease. Kidney Int 2004; 66(3):978-82.
- 41. Schiffmann R, Scott LJ. Pathophysiology and assessment
of neuropathic pain in Fabry disease, Acta Paediatr Suppl
2002; 91(439):48-52.
- 42. MacDermot KD, Holmes A, Miners AH. AndersonFabry disease: Clinical manifestations and impact of
disease in a cohort of 98 hemizygous males. J Med Genet
2001; 38(11):750-60.
- 43. Burlina AP, Sims KB, Politei JM, Bennet GJ, Baron
R,Sommer C, Møller AT, Hilz MJ. Early diagnosis of
peripheral nervous system involvement in Fabry disease
and treatment of neuropathic pain: The report of an
expert panel. BMC Neurology 2011; 11:61.
- 44. Mitsias P, Levine SR. Cerebrovascular complications of
Fabry’s disease. Ann Neurol 1996; 40(1):8-17.
- 45. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry
disease frequently occurs before diagnosis and in the
absence of other clinical events. Natural history data from
the Fabry Registry. Stroke 2009; 40(3):788-94.
- 46. Gündogdu A, Kotan D, Alemdar M. The frequency of
fabry disease among young cryptogenic stroke patients in
the City of Sakarya. Journal of Stroke and Cerebrovascular
Diseases 2017; 26(6):1334-40.
- 47. Kayıkçıoğlu M, Şimşek E, Uçar SK, Bayraktaroğlu
S, Onay H, Sözmen E, Çoker M. Fabry disease: An
overlooked diagnosis in adult cardiac patients. Turk
Kardiyol Dern Ars 2017; 45(6):549-55.
- 48. Sheppard MN. The heart in Fabry’s disease. Cardiovasc
Pathol 2011; 20(1):8-14.
- 49. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA,
Frustaci A. Early detection of Fabry cardiomyopathy by
tissue Doppler imaging. Circulation 2003; 107(15):1978-
84.
- 50. Rozenfeld P, Feriozzi S. Contribution of inflammatory
pathways to Fabry disease pathogenesis. Molecular
genetics and metabolism 2017; 122(3):19-27
- 51. Weidemann F,Niemann M, Breunig F, Herrmann S, Beer
M, Störk S, Voelker W, Ertl G, Wanner C, Strotmann
J. Long-term effects of enzyme replacement therapy on
Fabry cardiomyopathy: Evidence for a better outcome
with early treatment. Circulation 2009; 119(4):524-9.
- 52. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee
P, Waldek S, Caplan L, Linhorst GE, Desnick RJ.
İnternational Collaborative Fabry Disease Study Group.
Safety and efficacy of recombinant human alphagalactosidase A: replacement therapy in Fabry’s disease.
N Engl J Med 2001; 345(1):9-16.
- 53. Guinovart RM, Bielsa I, Pintos-Morell G, Ferrandiz
C. Enfermedad de Fabry: Espectro clínico de los
angioqueratomas. Actas Dermosifiliogr 2013; 104(3):261-
3.
- 54. Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR,
Manco S, Gnarra M, Morrone A, Cardinali G, Kovacs D,
Aspite N, Linder D, Parini R, Feliciani C. Angiokeratoma:
Decision-making aid for the diagnosis of Fabry disease. Br
J Dermatol 2012; 166(4):712-20.
- 55. Amann-Vesti BR, Gitzelmann G, Widmer U, Bosshard
NU, Steinmann B, Koppensteiner R. Severe lymphatic
microangiopathy in Fabry disease. Lymphat Res Biol
2003; 1(3):185-9.
- 56. Hoffmann B, Schwarz M, Mehta A, Keshav S; Fabry
Outcome Survey European Investigators. Gastrointestinal
symptoms in 342 patients with Fabry disease: Prevalence
and response to enzyme replacement therapy. Clin
Gastroenterol Hepatol 2007; 5(12):1447-53.
- 57. Conti G, Sergi B. Auditory and vestibular findings in Fabry
disease: A study of hemizygous males and heterozygous
females. Acta Paediatr Suppl 2003; 92(443):33-7.
- 58. Sher NA, Letson RD, Desnick RJ. The ocular
manifestations in Fabry’s disease. Arch Ophthalmol 1979;
97(4):671-6.
- 59. Rosenberg DM, Ferrans VJ, Fulmer JD, Line BR,
Barranger JA, Brady RO, Crystal RG. Chronic airflow
obstruction in Fabry’s disease. Am J Med 1980; 68(6):898-
905.
- 60. Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S,
Lachmann RH. Depression in adults with Fabry disease:
a common and underdiagnosed problem. J Inherit Metab
Dis 2007; 30:943-95.
- 61. Lidove O, Zeller V, Chicheportiche V, Meyssonier V,
Sene T, Godot S, Ziza JM. Musculoskeletal manifestations
of Fabry disease: A retrospective study. Joint Bone Spine
2016; 83(4):421-6.
- 62. Foda MM, Mahmood K, Rasuli P, Dunlap H, Kiruluta
G, Schillinger JF: High-flow priapism associated with
Fabry’s disease in a child: A case report and review of the
literature. Urology 1996; 48(6):949-52.
- 63. Kleinert J, Dehout F, Schwarting A, de Lorenzo AG,
Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart
A, Gal A, Houge G, Widmer U, Mehta A, SunderPlassmann G. Anemia is a new complication in Fabry
disease: Data from the Fabry Outcome Survey. Kidney
Int 2005; 67(5):1955-60.
- 64. Fukutomi M, Tanaka N, Uchinoumi H, Kanemoto M,
Nakao F, Yamada J, Kamei T, Takenaka T, Fujii T.
Japanese patients with Fabry disease predominantly
showing cardiac and neurological manifestation with
novel missense mutation: R220P. J Cardiol 2013; 62(1):
63-9.
- 65. Elleder M1, Bradová V, Smíd F, Budĕsínský M, Harzer
K, Kustermann-Kuhn B, Ledvinová J, Bĕlohlávek, Král
V, Dorazilová V. Cardiocyte storage and hypertrophy as
a sole manifestation of Fabry’s disease, Virchows Arch
Pathol Anat Histopathol 1990; 417(5):449-55.
- 66. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto
Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM,
Tanaka H, Tei C, Desnick RJ. Fabry disease: Detection
of undiagnosed hemodialysis patients and identification of
a “renal variant” phenotype. Kidney Int 2003; 64:801-7.
- 67. Linthorst GE, Hollak CE, Korevaar JC, Van Manen
JG, Aerts JM, Boeschoten EW. Alpha-Galactosidase
A deficiency in Dutch patients on dialysis: A critical
appraisal of screening for Fabry disease. Nephrol Dial
Transplant 2003; 18(8):1581-4.
- 68. Ishii S, Kase R, Sakuraba H, Suzuki Y. Characterization
of a mutant alphagalactosidase gene product for the lateonset cardiac form of Fabry disease. Biochem Biophys
Res Commun 1993; 197(3):1585-9.
- 69. Echevarria L, Benistan K, Toussaint A. Dubourg O,
Hagege AA, Eladari D, Jabbour F, Beldjord C, de
Mazancourt P, Germain DP.X-chromosome inactivation
in female patients with Fabry disease. Clin Genetics 2016;
89(1):44-54.
- 70. Boscaro F, Pieraccini G, la Marca G, Bartolucci G,
Luceri C, Luceri F, Moneti G. Rapid quantitation of
globotriaosylceramide in human plasma and urine: A
potential application for monitoring enzyme replacement
therapy in Anderson-Fabry disease. Rapid Commun
Mass Spectrom 2002; 16(16):1507-14.
- 71. Biberoğlu G. Fabry hastalığında laboratuvar tanı
yöntemleri. Turkiye Klinikleri J Pediatr 2012; 21 Suppl:
24-7.
- 72. Winchester B, Young E. Biochemical and genetic
diagnosis of Fabry disease. In. Mehta A, Beck M, SunderPlassmann G, eds. Fabry Disease: Perspectives from 5
Years of FOS. 1st ed. Oxford: Oxford Pharma Genesis,
2006.
- 73. Boutin M, Gagnon R, Lavoie P, Auray-Blais C. LC-MS/
MS analysis of plasmalyso-Gb(3) in Fabry disease. Clin
Chim Acta 2012; 414:273-80.
- 74. Rombach SM, Dekker N, Bouwman MG, Linthorst
GE, Zwinderman AH, Wijburg FA, Kuiper S, Bergh
Weerman MA, Groener JE, Poorthuis BJ, Hollak CE,
Aerts JM. Plasma globotriaosylsphingosine: Diagnostic
value and relation to clinical manifestations of Fabry
disease. Biochim Biophys Acta 2010; 1802(9):741-8.
- 75. Ezgü F. Lizozomal depo hastalıklarının tanı, izlem ve
tedavilerinin düzenlenmesinde moleküler analizlerin
önemi. J LSD 2010; 2(1);40-3.
- 76. Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MG,
Niermeijer MF. Prenatal diagnosis of Fabry’s disease by
direct analysis of chorionic villi. Prenat Diagn 1987; 7(4):
283-7.
- 77. Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes
DA, Linhorst GE, Timmermans J, Weidemann F, West
ML, Biegstraaten M, Depres Lekanne RH, Florquin
S, Postema PG, Tomberli B, van der Wal AC, Bergh
Weerman M,Hollak CE. Uncertain diagnosis of Fabry
disease: Consensus recommendation on diagnosis in
adults with left ventricular hypertrophy and genetic
variants of unknown significance.International Journal of
Cardiology 2014; 177:400-8.
- 78. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain
DP, Goldman M, Grabowski G, Packman S, Wilcox
WR. Fabry disease, an under-recognized multisystemic
disorder: Expert recommendations for diagnosis,
management, and enzyme replacement therapy. Ann
Intern Med 2003; 138(4):338-46.
- 79. Gordon KE, Ludman MD, Finley GA. Successful
treatment of painful crises of Fabry disease with low dose
morphine. Pediatr Neurol 1995; 12(3):250-1.
- 80. MacDermot J, MacDermot KD. Neuropathic pain in
Anderson-Fabry disease: Pathology and therapeutic
options. Eur J Pharmacol 2001; 429(1-3):121-5.
- 81. Saarto T, Wiffen PJ. Antidepressants for neuropathic
pain. Cochrane Database Syst Rev 2007; 4:CD005454.
- 82. Argoff CE, Barton NW, Brady RO, Ziessman HA.
Gastrointestinal symptoms and delayed gastric emptying
in Fabry’s disease: Response to metoclopramide. Nucl
Med Commun 1998; 19(9):887-91.
- 83. Eng CM, Germain DP, Banikazemi M, Warnock DG,
Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie
SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry
disease: Guidelines for the evaluation and management of
multiorgan system involvement. Genet Med 2006; 8:539-
48.
- 84. Mehta A, Hughes DA. Fabry Disease. Adam MP,
Ardinger HH, Pagon RA, Wallace SE, et al. eds.
GeneReviews® [Internet]. August 2002. Erişim Adresi:
https://www.ncbi.nlm.nih.gov/books/NBK1292/.
Erişim Tarihi:01.01.17.
- 85. Politei JM. Can we use statins to prevent stroke in Fabry
disease? J Inherit Metab Dis 2009; 32(4):481-7.
- 86. Crosbie TW, Packman W, Packman S. Psychological
aspects of patients with Fabry disease. J Inherit Metab Dis
2009; 32(6):745-53.
- 87. Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF,
Peigne V, Jaussaud R, Papo T. Clinical results of enzyme
replacement therapy in Fabry disease: A comprehensive
review of literature. Int J Clin Pract 2007; 61(2):293-302.
- 88. Vedder AC, Breunig F, Donker-Koopman WE, Mills K,
Young E, Winchester B, Ten Berge IJ, Groener JE, Aerts
JM, Wanner C, Hollak CE. Treatment of Fabry disease
with different dosing regimens of agalsidase: Effects on
antibody formation and GL-3. Mol Genet Metab 2008;
94(3):319-25.
Year 2019,
Volume: 5 Issue: 1, 21 - 31, 01.01.2019
Elif Nazlı Serin Ataş
Ramazan Çetinkaya
Funda Sarı
Abstract
The etiology of chronic kidney disease is multifactorial but diabetes mellitus and hypertension are the main factors. One of the rare causes is Fabry disease. Fabry disease is often overlooked in the diagnosis due to the low awareness of the disease, its rare occurrence, and the various clinical variants. The disease has X-related recessive inheritance and all men who carry the diseased X gene are therefore affected. The disease exhibits mosaicism in women due to the ionization in females. Fabry disease is detected by enzyme activity, gene analysis evaluation, and the measurement of accumulated metabolites in the blood or tissue. Enzyme replacement therapy and supportive therapy are used for the treatment. The clinician must be alert to not miss the disorder as it can have various manifestations
References
- 1. Mcphee SJ, Papadakis M. Current Medical Diagnosis and
Treatment 2016. Müftüoğlu E (ed). 54. baskı. Ankara:
Akademisyen Kitabevi, 2016: 890-929.
- 2. Germain D. Fabry disease. Orphanet J Rare Disease
2010;5:30.
- 3. Schiller PI, Itin PH. Angiokeratomas: An update.
Dermatology 1996; 193(4):275-82.
- 4. Gaggl M, El-Hadi S, Aigner C. Sunder-Plassmann G.
The renal history of fabry disease. G Ital Nefrol 2016; 33
Suppl 66:S66.14.
- 5. De Groot WP. Angiokeratoma corporis diffusum Fabry.
Amsterdam Dermatologica 1968; 136(5):432-3.
- 6. Kılıç M. Fabry hastalığının tarihçesi. Türkiye Klinikleri J
Pediatr 2012; 21 Suppl 1:1-6.
- 7. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML.
Differential assay for lysosomal alpha-galactosidases in
human tissues and its application to Fabry’s disease. Clin
Chim Acta 1981; 112(2):247-51.
- 8. Schiffmann R, Murray GJ, Treco D, Daniel P, SellosMoura M, Myers M,Quirk M J, Zirzow G C, Borowski M,
Loveday K, Anderson T, Gillespie F, Oliver K L, Jeffries
N O, Doo E, Liang T J, Kreps C, Frei K, Crutchfield K,
Selden R F, Brady RO. Infusion of alpha-galactosidase
A reduces tissue globotriaosylceramide storage in patients
with Fabry disease. Proc Natl Acad Sci USA 2000; 97(1):
365-70.
- 9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF.
Prevalence of lysosomal storage disorders, JAMA 1999;
281(3):249-54.
- 10. MacDermot KD, Holmes A, Miners AH. AndersonFabry disease: Clinical manifestations and impact of
disease in a cohort of 60 obligate carrier females. J Med
Genet 2001; 38(11):769-75.
- 11. Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang
CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao
CH, Cheng KH, Hsueh C, Niu DM. High incidence
of the cardiacvariant of Fabry disease revealed by
newbornscreening in the Taiwan Chinese population.
Circ Cardiovasc Genet 2009; 2(5):450-6.
- 12. Uçar SK. Fabry hastalığı (Ege Üniversitesi Tıp Fakültesi
tarama sonuçları). J LSD 2010; 2:35.
- 13. Barba-Romero MÁ, Rivera-Gallego A, Pintos-Morell
G; Spanish FOS-Study Group. Fabry disease in Spain:
description of Spanish patients and a comparison with other
European countries using data from the Fabry Outcome
Survey (FOS). Int J Clin Pract 2011; 65(8):903-10.
- 14. Tsuboi K, Suzuki S, Nagai M. Descriptive epidemiology
of Fabry disease among beneficiaries of the Specified
Disease Treatment Research Program in Japan. J
Epidemiol 2012; 22(4):370-4.
- 15. Burton BK, Charrow J, Hoganson GE, Waggoner D,
Tinkle B, Braddock SR, Schneider M, Grange DK,
Nash C, Shryock H, Barnett R, Shao R, Basheeruddin
K, Dizikes G. Newborn screening for lysosomal storage
disorders in illinois: The Initial 15-Month Experience. J
Pediatr 2017; 190:130-5.
- 16. Migeon BR. Females are Mosaics. X Inactivation and
Sex Differences in Disease, 1st ed, New York: Oxford
University Press, 2007; 259.
- 17. Maier EM, Osterrieder S, Whybra C, Ries M, Gal A,
Beck M, Roscher AA, Muntau AC. Disease manifestations
and X inactivation in heterozygous females with Fabry
disease. Acta Paediatr Suppl 2006; 95(451):30-8.
- 18. Chen Z, Ye W, Jiao S, Ding D, Long Z, Peng H, Peng Y,
Wang C, Pan Q, Xia K, Tang B, Jiang H. Diagnosis of a
pedigree with Fabry disease mimicking erythromelalgia:
The utility of next-generation sequencing in a precision
medicine perspective. Int J Clin Exp Med 2016;
9(8):16923-6.
- 19. El-Abbasi R, Singhal D, England JD. Fabry’s Disease. J
Neurol Sci 2014; 344:5-19.
- 20. Nagueh SF. Anderson-Fabry Disease and other lysosomal
storage disorders. Circulation 2014; 130(13):1081-90.
- 21. Cox TM. Biomarkers in lysosomal storage diseases:
A review. Acta Paediatr Suppl 2005; 94(447):39-42.
discussion 37-8.
- 22. Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ,
Johnson J,O Rourke E, Sims K, Walter G. Fabry Disease
Practice Guidelines: Recommendations of the National
Society of Genetic Counselors. J Genet Counsel 2013;
22(5):555-64.
- 23. Park JL, Shu L, Shayman JA. Differential involvement
of COX1 and COX2 in the vasculopathy associated
with the {alpha}-galactosidase A-knockout mouse. Am J
Physiol Heart Circ Physiol 2009; 296:1133-40.
- 24. Shen JS, Meng XL, Moore DF, Quirk JM, Shayman
JA, Schiffmann R, Kaneski CR. Globotriaosylceramide
induces oxidative stress and upregulates cell adhesion
molecule expression in Fabry disease endothelial cells.
Mol Genet Metab 2008; 95:163-8.
- 25. Chevrier M, Brakch N, Celine L, Genty D, Ramdani
Y, Moll S, Djavaheri-Mergny M, Brasse-Lagnel C,
Laquerriere A, Barbey F, Bekri S. Autophagosome
maturation is impaired in Fabry disease. Journal
Autophagy 2010; 6(5):589-99.
- 26. Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey
F, Geldenhuys L, West M, Ferluga D, Vujkovac B,
Howie AJ, Burns A, Reeve R, Waldek Stephen, Noël LH,
Grünfeld JP, Valbuena C, Oliveria JP, Müller J, Breunig
F, Zhang X, Warnock DG. Scoring system for renal
pathology in Fabry disease: Report of the International
Study Group of Fabry Nephropathy (ISGFN). Nephrol
Dial Transplant 2010; 25(7):2168-77.
- 27. Linhart A, Elliott PM. The heart in Anderson-Fabry
disease and other lysosomal storage disorders. Heart
2007; 93(4):528-35.
- 28. Sudarshan R, Vijayabala GS. Fabry Disease. Arşiv
Kaynak Tarama Dergisi 2013; 22(1):142-52.
- 29. Mauer M, Kopp JB, Schiffmann R. Clinical features and
diagnosis of Fabry disease. UpToDate. Massachusetts:
Wolters Kluwer Health, 2013.
- 30. Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy
findings in children and adolescents with Fabry disease
and minimal albuminuria. Am J Kidney Dis 2008; 51(5):
767-76.
- 31. Najafian B, Svarstad E, Bostad L, Gubler MC, Tøndel
C, Whitley C,Mauer M. Progressive podocyte injury and
globotriaosylceramide (GL-3) accumulation in young
patients with Fabry disease. Kidney Int 2011; 79:663-70
- 32. Oliveira JP. Staging of Fabry disease using renal biopsies.
Clin Ther 2007; 29 Suppl A: 15-6. Erişim adresi: https://
doi.org/10.1016/S0149-2918(07)80121-4.
- 33. Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain
DP, Linthorst GE, Serra AL, Maródi L, Mignani R,
Cianciaruso B, Vujkovac B, Lemay R, Johnson DB,
Waldek S, Warnock DG. Prognostic indicators of renal
disease progression in adults with Fabry disease: Natural
history data from the Fabry Registry. Clin J Am Soc
Nephrol 2010; 5(12):2220-8.
- 34. Trimarchi H, Canzonieri R, Schiel A, CostalesCollaguazo A, Politei J, Stern A, Paulero M, Rengel T,
Andrews J, Forrester M, Lombi M, Pomeranz V, Iriarte
R, Muryan A, Zotta E, Sanchez-Niño MD, Ortiz A.
Increased urinary CD80 excretion and podocyturia in
Fabry disease. J Transl Med 2016; 14:289.
- 35. Schiffmann R, Warnock DG, Banikazemi M, Bultas J,
Linthorst GE, Packman S, Sorensen SA, Wilcox WR,
Desnick RJ. Fabry disease: Progression of nephropathy,
and prevalence of cardiac and cerebrovascular events
before enzyme replacement therapy. Nephrol Dial
Transplant 2009; 24:2102-11.
- 36. Vedder AC, Linthorst GE, Van Breemen MJ, Groener
JEM, Bemelman FJ, Strijland A, Mannens M, Aerts G,
Hollak. The Dutch Fabry cohort: Diversity of clinical
manifestations and Gb3 levels. J Inherit Metab Dis 2007;
30(1):68-78.
- 37. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi
M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores
GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig
F, Wanner C, Warnock DG, Lemay RM, Germain DP;
Fabry Registry. Females with Fabry disease frequently
have major organ involvement: lessons from the Fabry
Registry. Mol Genet Metab 2008; 93:112-28.
- 38. Nowak A, Koch G, Huynh-Do U, Siegenthaler M, Marti
HP, Pfister M. Disease progression modeling to evaluate
the effects of enzyme replacement therapy on kidney
function in adult patients with the classic phenotype of
fabry disease. Kidney Blood Press Res 2017; 42(1):1-15.
- 39. Onishi A, Dyck PJ. Loss of small peripheral sensory
neurons in Fabry disease. Histologic and morphometric
evaluation of cutaneous nerves, spinal ganglia, and
posterior columns. Arch Neurol 1974; 31(2):120-7.
- 40. Ries M, Bettis KE, Choyke P, Kopp JB, Austin HA,
Brady RO, Schiffmann R. Parapelvic kidney cysts: A
distinguishing feature with high prevalence in Fabry
disease. Kidney Int 2004; 66(3):978-82.
- 41. Schiffmann R, Scott LJ. Pathophysiology and assessment
of neuropathic pain in Fabry disease, Acta Paediatr Suppl
2002; 91(439):48-52.
- 42. MacDermot KD, Holmes A, Miners AH. AndersonFabry disease: Clinical manifestations and impact of
disease in a cohort of 98 hemizygous males. J Med Genet
2001; 38(11):750-60.
- 43. Burlina AP, Sims KB, Politei JM, Bennet GJ, Baron
R,Sommer C, Møller AT, Hilz MJ. Early diagnosis of
peripheral nervous system involvement in Fabry disease
and treatment of neuropathic pain: The report of an
expert panel. BMC Neurology 2011; 11:61.
- 44. Mitsias P, Levine SR. Cerebrovascular complications of
Fabry’s disease. Ann Neurol 1996; 40(1):8-17.
- 45. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry
disease frequently occurs before diagnosis and in the
absence of other clinical events. Natural history data from
the Fabry Registry. Stroke 2009; 40(3):788-94.
- 46. Gündogdu A, Kotan D, Alemdar M. The frequency of
fabry disease among young cryptogenic stroke patients in
the City of Sakarya. Journal of Stroke and Cerebrovascular
Diseases 2017; 26(6):1334-40.
- 47. Kayıkçıoğlu M, Şimşek E, Uçar SK, Bayraktaroğlu
S, Onay H, Sözmen E, Çoker M. Fabry disease: An
overlooked diagnosis in adult cardiac patients. Turk
Kardiyol Dern Ars 2017; 45(6):549-55.
- 48. Sheppard MN. The heart in Fabry’s disease. Cardiovasc
Pathol 2011; 20(1):8-14.
- 49. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA,
Frustaci A. Early detection of Fabry cardiomyopathy by
tissue Doppler imaging. Circulation 2003; 107(15):1978-
84.
- 50. Rozenfeld P, Feriozzi S. Contribution of inflammatory
pathways to Fabry disease pathogenesis. Molecular
genetics and metabolism 2017; 122(3):19-27
- 51. Weidemann F,Niemann M, Breunig F, Herrmann S, Beer
M, Störk S, Voelker W, Ertl G, Wanner C, Strotmann
J. Long-term effects of enzyme replacement therapy on
Fabry cardiomyopathy: Evidence for a better outcome
with early treatment. Circulation 2009; 119(4):524-9.
- 52. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee
P, Waldek S, Caplan L, Linhorst GE, Desnick RJ.
İnternational Collaborative Fabry Disease Study Group.
Safety and efficacy of recombinant human alphagalactosidase A: replacement therapy in Fabry’s disease.
N Engl J Med 2001; 345(1):9-16.
- 53. Guinovart RM, Bielsa I, Pintos-Morell G, Ferrandiz
C. Enfermedad de Fabry: Espectro clínico de los
angioqueratomas. Actas Dermosifiliogr 2013; 104(3):261-
3.
- 54. Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR,
Manco S, Gnarra M, Morrone A, Cardinali G, Kovacs D,
Aspite N, Linder D, Parini R, Feliciani C. Angiokeratoma:
Decision-making aid for the diagnosis of Fabry disease. Br
J Dermatol 2012; 166(4):712-20.
- 55. Amann-Vesti BR, Gitzelmann G, Widmer U, Bosshard
NU, Steinmann B, Koppensteiner R. Severe lymphatic
microangiopathy in Fabry disease. Lymphat Res Biol
2003; 1(3):185-9.
- 56. Hoffmann B, Schwarz M, Mehta A, Keshav S; Fabry
Outcome Survey European Investigators. Gastrointestinal
symptoms in 342 patients with Fabry disease: Prevalence
and response to enzyme replacement therapy. Clin
Gastroenterol Hepatol 2007; 5(12):1447-53.
- 57. Conti G, Sergi B. Auditory and vestibular findings in Fabry
disease: A study of hemizygous males and heterozygous
females. Acta Paediatr Suppl 2003; 92(443):33-7.
- 58. Sher NA, Letson RD, Desnick RJ. The ocular
manifestations in Fabry’s disease. Arch Ophthalmol 1979;
97(4):671-6.
- 59. Rosenberg DM, Ferrans VJ, Fulmer JD, Line BR,
Barranger JA, Brady RO, Crystal RG. Chronic airflow
obstruction in Fabry’s disease. Am J Med 1980; 68(6):898-
905.
- 60. Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S,
Lachmann RH. Depression in adults with Fabry disease:
a common and underdiagnosed problem. J Inherit Metab
Dis 2007; 30:943-95.
- 61. Lidove O, Zeller V, Chicheportiche V, Meyssonier V,
Sene T, Godot S, Ziza JM. Musculoskeletal manifestations
of Fabry disease: A retrospective study. Joint Bone Spine
2016; 83(4):421-6.
- 62. Foda MM, Mahmood K, Rasuli P, Dunlap H, Kiruluta
G, Schillinger JF: High-flow priapism associated with
Fabry’s disease in a child: A case report and review of the
literature. Urology 1996; 48(6):949-52.
- 63. Kleinert J, Dehout F, Schwarting A, de Lorenzo AG,
Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart
A, Gal A, Houge G, Widmer U, Mehta A, SunderPlassmann G. Anemia is a new complication in Fabry
disease: Data from the Fabry Outcome Survey. Kidney
Int 2005; 67(5):1955-60.
- 64. Fukutomi M, Tanaka N, Uchinoumi H, Kanemoto M,
Nakao F, Yamada J, Kamei T, Takenaka T, Fujii T.
Japanese patients with Fabry disease predominantly
showing cardiac and neurological manifestation with
novel missense mutation: R220P. J Cardiol 2013; 62(1):
63-9.
- 65. Elleder M1, Bradová V, Smíd F, Budĕsínský M, Harzer
K, Kustermann-Kuhn B, Ledvinová J, Bĕlohlávek, Král
V, Dorazilová V. Cardiocyte storage and hypertrophy as
a sole manifestation of Fabry’s disease, Virchows Arch
Pathol Anat Histopathol 1990; 417(5):449-55.
- 66. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto
Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM,
Tanaka H, Tei C, Desnick RJ. Fabry disease: Detection
of undiagnosed hemodialysis patients and identification of
a “renal variant” phenotype. Kidney Int 2003; 64:801-7.
- 67. Linthorst GE, Hollak CE, Korevaar JC, Van Manen
JG, Aerts JM, Boeschoten EW. Alpha-Galactosidase
A deficiency in Dutch patients on dialysis: A critical
appraisal of screening for Fabry disease. Nephrol Dial
Transplant 2003; 18(8):1581-4.
- 68. Ishii S, Kase R, Sakuraba H, Suzuki Y. Characterization
of a mutant alphagalactosidase gene product for the lateonset cardiac form of Fabry disease. Biochem Biophys
Res Commun 1993; 197(3):1585-9.
- 69. Echevarria L, Benistan K, Toussaint A. Dubourg O,
Hagege AA, Eladari D, Jabbour F, Beldjord C, de
Mazancourt P, Germain DP.X-chromosome inactivation
in female patients with Fabry disease. Clin Genetics 2016;
89(1):44-54.
- 70. Boscaro F, Pieraccini G, la Marca G, Bartolucci G,
Luceri C, Luceri F, Moneti G. Rapid quantitation of
globotriaosylceramide in human plasma and urine: A
potential application for monitoring enzyme replacement
therapy in Anderson-Fabry disease. Rapid Commun
Mass Spectrom 2002; 16(16):1507-14.
- 71. Biberoğlu G. Fabry hastalığında laboratuvar tanı
yöntemleri. Turkiye Klinikleri J Pediatr 2012; 21 Suppl:
24-7.
- 72. Winchester B, Young E. Biochemical and genetic
diagnosis of Fabry disease. In. Mehta A, Beck M, SunderPlassmann G, eds. Fabry Disease: Perspectives from 5
Years of FOS. 1st ed. Oxford: Oxford Pharma Genesis,
2006.
- 73. Boutin M, Gagnon R, Lavoie P, Auray-Blais C. LC-MS/
MS analysis of plasmalyso-Gb(3) in Fabry disease. Clin
Chim Acta 2012; 414:273-80.
- 74. Rombach SM, Dekker N, Bouwman MG, Linthorst
GE, Zwinderman AH, Wijburg FA, Kuiper S, Bergh
Weerman MA, Groener JE, Poorthuis BJ, Hollak CE,
Aerts JM. Plasma globotriaosylsphingosine: Diagnostic
value and relation to clinical manifestations of Fabry
disease. Biochim Biophys Acta 2010; 1802(9):741-8.
- 75. Ezgü F. Lizozomal depo hastalıklarının tanı, izlem ve
tedavilerinin düzenlenmesinde moleküler analizlerin
önemi. J LSD 2010; 2(1);40-3.
- 76. Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MG,
Niermeijer MF. Prenatal diagnosis of Fabry’s disease by
direct analysis of chorionic villi. Prenat Diagn 1987; 7(4):
283-7.
- 77. Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes
DA, Linhorst GE, Timmermans J, Weidemann F, West
ML, Biegstraaten M, Depres Lekanne RH, Florquin
S, Postema PG, Tomberli B, van der Wal AC, Bergh
Weerman M,Hollak CE. Uncertain diagnosis of Fabry
disease: Consensus recommendation on diagnosis in
adults with left ventricular hypertrophy and genetic
variants of unknown significance.International Journal of
Cardiology 2014; 177:400-8.
- 78. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain
DP, Goldman M, Grabowski G, Packman S, Wilcox
WR. Fabry disease, an under-recognized multisystemic
disorder: Expert recommendations for diagnosis,
management, and enzyme replacement therapy. Ann
Intern Med 2003; 138(4):338-46.
- 79. Gordon KE, Ludman MD, Finley GA. Successful
treatment of painful crises of Fabry disease with low dose
morphine. Pediatr Neurol 1995; 12(3):250-1.
- 80. MacDermot J, MacDermot KD. Neuropathic pain in
Anderson-Fabry disease: Pathology and therapeutic
options. Eur J Pharmacol 2001; 429(1-3):121-5.
- 81. Saarto T, Wiffen PJ. Antidepressants for neuropathic
pain. Cochrane Database Syst Rev 2007; 4:CD005454.
- 82. Argoff CE, Barton NW, Brady RO, Ziessman HA.
Gastrointestinal symptoms and delayed gastric emptying
in Fabry’s disease: Response to metoclopramide. Nucl
Med Commun 1998; 19(9):887-91.
- 83. Eng CM, Germain DP, Banikazemi M, Warnock DG,
Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie
SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry
disease: Guidelines for the evaluation and management of
multiorgan system involvement. Genet Med 2006; 8:539-
48.
- 84. Mehta A, Hughes DA. Fabry Disease. Adam MP,
Ardinger HH, Pagon RA, Wallace SE, et al. eds.
GeneReviews® [Internet]. August 2002. Erişim Adresi:
https://www.ncbi.nlm.nih.gov/books/NBK1292/.
Erişim Tarihi:01.01.17.
- 85. Politei JM. Can we use statins to prevent stroke in Fabry
disease? J Inherit Metab Dis 2009; 32(4):481-7.
- 86. Crosbie TW, Packman W, Packman S. Psychological
aspects of patients with Fabry disease. J Inherit Metab Dis
2009; 32(6):745-53.
- 87. Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF,
Peigne V, Jaussaud R, Papo T. Clinical results of enzyme
replacement therapy in Fabry disease: A comprehensive
review of literature. Int J Clin Pract 2007; 61(2):293-302.
- 88. Vedder AC, Breunig F, Donker-Koopman WE, Mills K,
Young E, Winchester B, Ten Berge IJ, Groener JE, Aerts
JM, Wanner C, Hollak CE. Treatment of Fabry disease
with different dosing regimens of agalsidase: Effects on
antibody formation and GL-3. Mol Genet Metab 2008;
94(3):319-25.