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Clinical properties and disease prognosis in cases of glycogen storage disease type 1a and type 1b

Yıl 2013, , 117 - 122, 01.06.2013
https://doi.org/10.4274/tpa.185

Öz

Aim: To describe the characteristics of patients with type I glycogenosis the presentation types the main clinical and laboratory signs and also the disease outcomes on long term follow up Material and Method: 30 patients with glycogen storage disease type I who followed up our clinic were included in these study The mean age of the patients was 12 plusmn;24 months 5 month 20 years and 16 patients were male and 14 were female Twenty seven patients were type Ia and three patients were type Ib glycogenosis Results: The main complaints were acidotic breathing 93 3 abdominal protruding 83 3 and main physical finding was hepatomegaly 100 on admission Among laboratory parameters hypoglycemia increased transaminase values hypertriglyceridemia lactic acidosis hyperuricemia were the most frequent findings Short stature osteoporosis microalbuminuria proteinuria and liver adenoma were determined in 50 20 16 7 55 6 6 92 of patients after the evaluation of patients in terms of long term complications respectively Conclusions: Glycogen storage disease type I is a rare condition but with possible life threatening consequences It has to be kept in mind whenever severe hepatomegaly and or hypoglycemia are present Glycogen storage disease type l causes severe complications unless it is not treated appropriately Early diagnosis and good metabolic control with dietary therapy may prevent these complications and increase life quality of the patients Turk Arch Ped 2013; 48: 117 22

Kaynakça

  • Chou JY, Matern D, Mansfield BC, Chen YT. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2002; 2(2): 121-43.
  • Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem 1999; 274(9): 5532-6.
  • Clinical course and outcome of glycogen-storage disease type 1a and type 1b R Froissart, I Maire. Glycogenosis type 1 or von Gierke’s disease. In: JM Saudubray (ed). Orphanet Encyclopedia 2002: 1-8.
  • Gitzelmann R, Bosshard NU. Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review. Eur J Pediatr 1993; 152(Suppl 1): 33-8.
  • Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP. Intestinal function in glycogen storage disease type I. J Inherit Metab Dis 2002; 25(4): 261-7.
  • Rake JP, ten Berge AM, Visser G, et al. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart. Eur J Pediatr 2000; 159(5): 322-30.
  • Tunçbilek E, Koc I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994; 58(4): 321-9.
  • Chen YT. Glycogen storage diseases. In: Scriver C, Beaudet A, Sly W, Valle D, Childs B, KinzlerKW, Vogelstein B, (eds). The metabolic and molecular bases of inherited disease. NewYork: McGraw-Hill, 2001;1521–55.
  • Neyzi O, Bınyıldız P, Alp H. Türk çocuklarının persantil büyüme eğrileri. İst. Tıp Fak. Mecm 1978; 41: 3-22.
  • Bundak R. Normal büyüme. İçinde: Günöz H, Öcal G, Yordam N, Kurtoğlu S (yazarlar). Pediatrik Endokrinoloji. Ankara: Kalkan Matbaacılık, 2003: 39-64.
  • Pesce MA. Laboratory testing in infants and children. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, (eds). Nelson textbook of pediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007; 2939Nechyba C. Blood chemistries and body fluids. In: Gunn VL, Nechyba C, (eds). The Harriet lane handbook. Philadelphia: Mosby, 2002; 549-67.
  • Saltik IN, Ozen H, Ciliv G, et al. Glycogen storage disease type Ia: frequency and clinical course in Turkish children. Indian J Pediatr 2000; 67(7): 497-501.
  • Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002; 161(Suppl 1): 20-34.
  • Gitzelmann R, Spycher MA. Oral cornstarch therapy: is persorption harmless? Eur J Pediatr 1993; 152(7): 592-4.
  • Yamaguchi T, Ihara K, Matsumoto T, et al. Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. Inflamm Bowel Dis 2001; 7(2): 128-32.
  • Greene HL, Swift LL, Knapp HR. Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease. J Pediatr 1991; 119(3): 398-403.
  • Bandsma RH, Prinsen BH, van Der Velden Mde S, et al. Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res 2008; 63(6): 702-7.
  • Bandsma RH, Rake JP, Visser G, et al. Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. J Pediatr 2002;140(2): 256Bandsma RH, Smit GP, Kuipers F. Disturbed lipid metabolism in glycogen storage disease type 1. Eur J Pediatr 2002; 161(Suppl 1): 65-9.
  • Froissart R, Piraud M, Boudjemline AM, et al. Glucose-6phosphatase deficiency. Orphanet J Rare Dis 2011; 20: 6-27.
  • Corby DG, Putnam CW, Greene HL. Impaired platelet function in glucose-6-phosphatase deficiency. J Pediatr 1974; 85(1): 71-6.
  • Smit GP. The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 1993; 152(Suppl 1): 52-5.
  • Talente GM, Coleman RA, Alter C, et al. Glycogen storage disease in adults. Ann Intern Med 1994; 120(3): 218-26. de Parscau L, Guibaud P, Labrune P, Odièvre M. Long-term course of hepatic glycogenosis. A retrospective study of 76 cases. Arch Fr Pediatr 1988; 45(9): 641-5.
  • Wolfsdorf JI, Laffel LM, Crigler JF Jr. Metabolic control and renal dysfunction in type I glycogen storage disease. J Inher Metab Dis 1997; 20(4): 559-68.
  • Moses SW. Historical highlights and unsolved problems in glycogen storage disease type 1. Eur J Pediatr 2002; 161(Suppl 1): 2Labrune P, Trioche P, Duvaltier I, Chevalier P, Odièvre M. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997; 24(3): 276-9.
  • Daga BV, Shah VR, More RB. CT scan diagnosis of hepatic adenoma in a case of von Gierke disease. Indian J Radiol Imaging 2012; 22(1): 54-7.
  • Frost HM, Schönau E. The “muscle-bone unit” in children and adolescents: a 2000 overview. J Pediatr Endocrinol Metab 2000; 13(6): 571-90.
  • Rake JP, Visser G, Huismans D, et al. Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. J Inherit Metab Dis 2003; 26(4): 371-84.
  • Lee PJ, Dalton RN, Shah V, Hindmarsh PC, Leonard JV. Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol 1995; 9(6): 705-10.
  • Restaino I, Kaplan BS, Stanley C, Baker L. Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 1993; 122(3): 392-6.
  • Araoka T, Takeoka H, Abe H, et al. Early diagnosis and treatment may prevent the development of complications in an adult patient with glycogen storage disease type Ia. Intern Med 2010; 49(16): 1787

Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri

Yıl 2013, , 117 - 122, 01.06.2013
https://doi.org/10.4274/tpa.185

Öz

Amaç: Glikojen depo hastalığı tip 1 kan şekeri düzenlenmesinde kilit rol oynayan glukoz 6 fosfataz sisteminde işlev bozukluğu sonucu meydana gelen otozomal çekinik geçişli bir hastalık grubudur Bu çalışma ile kliniğimizde glikojen depo tip 1 tanısı ile izlenen hastaları başvuru anındaki yakınmaları klinik ve laboratuvar bulguları ve uzun dönem komplikasyonları açısından değerlendirmeyi planladık.

Gereç ve Yöntem: Çalışma tanı anında ortalama yaşı 12 plusmn;24 ay 5ay 10 yaş olan 16 rsquo;sı erkek 14 rsquo;ü kız 30 glikojen depo hastalığı tip 1 tanılı hastada yapılmıştır Hastaların 27 rsquo;si glikojen depo hastalığı tip 1a üçü glikojen depo hastalığı tip 1b tanısı ile izlenmektedir.

Bulgular: Hastalarının tanı anındaki yakınmaları incelendiğinde; sık soluk alıp verme 93 3 ve karın şişliği 83 3 nedeniyle başvurunun en yüksek sıklıkta olduğu saptanmıştır Tanı anında hastaların tümünde karaciğer büyüklüğü saptanmıştır Laboratuvar değişkenleri arasında hipoglisemi transaminaz düzeylerinde artış hipertrigliseridemi laktik asidoz hiperürisemi en sık gözlenen bulgulardır Uzun dönem komplikasyonlar açısından değerlendirildiğinde; hastaların 50 rsquo;sinde boy kısalığı 55 6 rsquo;sında osteoporoz 20 rsquo;sinde mikroalbüminüri 16 7 rsquo;sinde proteinüri ve 6 92 rsquo;sinde karaciğer adenomu saptanmıştır. 

Çıkarımlar: Glikojen depo hastalığı tip 1 nadir görülmesine rağmen hayatı tehdit edebilecek komplikasyonları nedeni ile belirgin karaciğer büyüklüğü ve veya hipoglisemi varlığında düşünülmesi gereken kalıtsal bir hastalıktır Erken tanı ve diyet tedavisi ile yeterli metabolik kontrolün sağlanması hem komplikasyonların gelişmesini önleyebilmekte hem de hastaların yaşam kalitesini artırmaktadır.

Kaynakça

  • Chou JY, Matern D, Mansfield BC, Chen YT. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2002; 2(2): 121-43.
  • Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem 1999; 274(9): 5532-6.
  • Clinical course and outcome of glycogen-storage disease type 1a and type 1b R Froissart, I Maire. Glycogenosis type 1 or von Gierke’s disease. In: JM Saudubray (ed). Orphanet Encyclopedia 2002: 1-8.
  • Gitzelmann R, Bosshard NU. Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review. Eur J Pediatr 1993; 152(Suppl 1): 33-8.
  • Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP. Intestinal function in glycogen storage disease type I. J Inherit Metab Dis 2002; 25(4): 261-7.
  • Rake JP, ten Berge AM, Visser G, et al. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart. Eur J Pediatr 2000; 159(5): 322-30.
  • Tunçbilek E, Koc I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994; 58(4): 321-9.
  • Chen YT. Glycogen storage diseases. In: Scriver C, Beaudet A, Sly W, Valle D, Childs B, KinzlerKW, Vogelstein B, (eds). The metabolic and molecular bases of inherited disease. NewYork: McGraw-Hill, 2001;1521–55.
  • Neyzi O, Bınyıldız P, Alp H. Türk çocuklarının persantil büyüme eğrileri. İst. Tıp Fak. Mecm 1978; 41: 3-22.
  • Bundak R. Normal büyüme. İçinde: Günöz H, Öcal G, Yordam N, Kurtoğlu S (yazarlar). Pediatrik Endokrinoloji. Ankara: Kalkan Matbaacılık, 2003: 39-64.
  • Pesce MA. Laboratory testing in infants and children. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, (eds). Nelson textbook of pediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007; 2939Nechyba C. Blood chemistries and body fluids. In: Gunn VL, Nechyba C, (eds). The Harriet lane handbook. Philadelphia: Mosby, 2002; 549-67.
  • Saltik IN, Ozen H, Ciliv G, et al. Glycogen storage disease type Ia: frequency and clinical course in Turkish children. Indian J Pediatr 2000; 67(7): 497-501.
  • Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002; 161(Suppl 1): 20-34.
  • Gitzelmann R, Spycher MA. Oral cornstarch therapy: is persorption harmless? Eur J Pediatr 1993; 152(7): 592-4.
  • Yamaguchi T, Ihara K, Matsumoto T, et al. Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. Inflamm Bowel Dis 2001; 7(2): 128-32.
  • Greene HL, Swift LL, Knapp HR. Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease. J Pediatr 1991; 119(3): 398-403.
  • Bandsma RH, Prinsen BH, van Der Velden Mde S, et al. Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res 2008; 63(6): 702-7.
  • Bandsma RH, Rake JP, Visser G, et al. Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. J Pediatr 2002;140(2): 256Bandsma RH, Smit GP, Kuipers F. Disturbed lipid metabolism in glycogen storage disease type 1. Eur J Pediatr 2002; 161(Suppl 1): 65-9.
  • Froissart R, Piraud M, Boudjemline AM, et al. Glucose-6phosphatase deficiency. Orphanet J Rare Dis 2011; 20: 6-27.
  • Corby DG, Putnam CW, Greene HL. Impaired platelet function in glucose-6-phosphatase deficiency. J Pediatr 1974; 85(1): 71-6.
  • Smit GP. The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 1993; 152(Suppl 1): 52-5.
  • Talente GM, Coleman RA, Alter C, et al. Glycogen storage disease in adults. Ann Intern Med 1994; 120(3): 218-26. de Parscau L, Guibaud P, Labrune P, Odièvre M. Long-term course of hepatic glycogenosis. A retrospective study of 76 cases. Arch Fr Pediatr 1988; 45(9): 641-5.
  • Wolfsdorf JI, Laffel LM, Crigler JF Jr. Metabolic control and renal dysfunction in type I glycogen storage disease. J Inher Metab Dis 1997; 20(4): 559-68.
  • Moses SW. Historical highlights and unsolved problems in glycogen storage disease type 1. Eur J Pediatr 2002; 161(Suppl 1): 2Labrune P, Trioche P, Duvaltier I, Chevalier P, Odièvre M. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997; 24(3): 276-9.
  • Daga BV, Shah VR, More RB. CT scan diagnosis of hepatic adenoma in a case of von Gierke disease. Indian J Radiol Imaging 2012; 22(1): 54-7.
  • Frost HM, Schönau E. The “muscle-bone unit” in children and adolescents: a 2000 overview. J Pediatr Endocrinol Metab 2000; 13(6): 571-90.
  • Rake JP, Visser G, Huismans D, et al. Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. J Inherit Metab Dis 2003; 26(4): 371-84.
  • Lee PJ, Dalton RN, Shah V, Hindmarsh PC, Leonard JV. Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol 1995; 9(6): 705-10.
  • Restaino I, Kaplan BS, Stanley C, Baker L. Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 1993; 122(3): 392-6.
  • Araoka T, Takeoka H, Abe H, et al. Early diagnosis and treatment may prevent the development of complications in an adult patient with glycogen storage disease type Ia. Intern Med 2010; 49(16): 1787
Toplam 30 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm Özgün Araştırma
Yazarlar

Fatma Tuba Eminoğlu Bu kişi benim

Leyla Tümer Bu kişi benim

İlyas Okur Bu kişi benim

Fatih Süheyl Ezgü Bu kişi benim

Alev Hasanoğlu Bu kişi benim

Yayımlanma Tarihi 1 Haziran 2013
Yayımlandığı Sayı Yıl 2013

Kaynak Göster

APA Eminoğlu, F. T., Tümer, L., Okur, İ., Ezgü, F. S., vd. (2013). Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri. Türk Pediatri Arşivi, 48(2), 117-122. https://doi.org/10.4274/tpa.185
AMA Eminoğlu FT, Tümer L, Okur İ, Ezgü FS, Hasanoğlu A. Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri. Türk Pediatri Arşivi. Haziran 2013;48(2):117-122. doi:10.4274/tpa.185
Chicago Eminoğlu, Fatma Tuba, Leyla Tümer, İlyas Okur, Fatih Süheyl Ezgü, ve Alev Hasanoğlu. “Glikojen Depo Tip 1a Ve Tip 1b olgularında Klinik özellikler Ve hastalığın Seyri”. Türk Pediatri Arşivi 48, sy. 2 (Haziran 2013): 117-22. https://doi.org/10.4274/tpa.185.
EndNote Eminoğlu FT, Tümer L, Okur İ, Ezgü FS, Hasanoğlu A (01 Haziran 2013) Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri. Türk Pediatri Arşivi 48 2 117–122.
IEEE F. T. Eminoğlu, L. Tümer, İ. Okur, F. S. Ezgü, ve A. Hasanoğlu, “Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri”, Türk Pediatri Arşivi, c. 48, sy. 2, ss. 117–122, 2013, doi: 10.4274/tpa.185.
ISNAD Eminoğlu, Fatma Tuba vd. “Glikojen Depo Tip 1a Ve Tip 1b olgularında Klinik özellikler Ve hastalığın Seyri”. Türk Pediatri Arşivi 48/2 (Haziran 2013), 117-122. https://doi.org/10.4274/tpa.185.
JAMA Eminoğlu FT, Tümer L, Okur İ, Ezgü FS, Hasanoğlu A. Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri. Türk Pediatri Arşivi. 2013;48:117–122.
MLA Eminoğlu, Fatma Tuba vd. “Glikojen Depo Tip 1a Ve Tip 1b olgularında Klinik özellikler Ve hastalığın Seyri”. Türk Pediatri Arşivi, c. 48, sy. 2, 2013, ss. 117-22, doi:10.4274/tpa.185.
Vancouver Eminoğlu FT, Tümer L, Okur İ, Ezgü FS, Hasanoğlu A. Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri. Türk Pediatri Arşivi. 2013;48(2):117-22.