Bartter Sendromu

Yıl 2021, Cilt: 3 Sayı: 2, 36 - 45, 02.11.2022

Nuran Cetın , Betin Bilkan Karaman , Didem Yazar , Elif Akay , Kadriye Aydoğdu , Mert Kılıç , Şahin Esen

Öz

Bartter sendromu, Henle kulpunun kalın çıkan kolunda tuz geri emiliminin bozulması nedeni ile tuz kaybı, hipokalemi ve metabolik alkaloz ile sonuçlanan kalıtsal bir renal tübüler bozukluktur. Bu yazıda çocuklarda Bartter sendromunun patofizyolojisi, klinik ve laboratuvar bulguları sunulmuştur

Anahtar Kelimeler

Bartter sendromu, Henle kulpu, çocukluk çağı

Destekleyen Kurum

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Proje Numarası

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Teşekkür

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Bartter Syndrome

Öz

Bartter syndrome is an inherited renal tubular disorder that results in salt wasting, hypokalemia, and metabolic alkalosis due to impaired salt reabsorption in the thick ascending limb of the loop of Henle. In this article, the pathophysiology, clinical and laboratory findings of Bartter syndrome in children are presented.

Anahtar Kelimeler

Bartter Syndrome, Henle loop, childhood

Proje Numarası

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Kaynakça

• Referans1 Devuyst O, Avner ED, Harmon WE, et al. Tubular Disorders of Electrolyte Regulation. In: Avner E., Harmon W., Niaudet P., Yoshikawa N. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. Pediatr Nephrol 2009;929-35.
• Referans2 Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: Salt-losing tubulopathies with loop or DCT defects: review. Pediatr Nephrol 2011;26(10):1789-802.
• Referans3 McLarnon S, Holden D, Ward D, et al. Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor. Biochem Biophys Res Commun 2002;297(1):71-7.
• Referans4 Jeck N, Schlingmann KP, Reinalter SC, et al. Salt handling in the distal nephron: lessons learned from inherited human disorders: review. Am J Physiol Regul Integr Comp Physiol 2005;288(4):R782–95.
• Referans5 Hall JE, Hall ME. Guyton and Hall Textbook of Medical Physiology. 14th Edition, Philedalphia:Elsevier, 2021;351.
• Referans6 Kömhof M, Lagmani K. MAGED2: a novel of antenatal Bartter’s syndrome: review. Curr Opin Nephrol Hypertens 2018;27(4):323–8.
• Referans7 Satlin LM, Bockenhauer D, Avner ED. Physiology of the developing kidney: potassium homeostasis and its disorder. Pediatric Nephrology Springer-Verlag 2016;17:219–46.
• Referans8 Kleta R, Bockenhauer D. Salt-Losing Tubulopathies in Children: What's New, What's Controversial?: review. J Am Soc Nephrol 2018;29(3):727–39.
• Referans9 Seyberth HW, Weber S, Komhoff M. Bartter's and Gitelman's syndrome: review. Curr Opin Pediatr 2017;29(2):179–86.
• Referans10 Ji W, Foo JN, O’Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008;40(5):592–9.
• Referans11 Kleta R, Bockenhauerc D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 2006;104(2):73–80.
• Referans12 Mount DB. Thick ascending limb of the loop of henle. Clin J Am Soc Nephrol 2014; 9(11):1974–86.
• Referans13 Hennings JC, Andrini O, Picard N, et al. The clc-k2 chloride channel is critical for salt handling in the distal nephron. J Am Soc Nephrol 2017; 28(1):209–17.
• Referans14 Wald H, Scherzer P, Popovtzer MM. Inhibition of thick ascending limb Naþ-Kþ-ATPase activity in salt-loaded rats by furosemide. Am J Physiol 1989; 256(4 Pt 2): F549–55.
• Referans15 Waldegger S, Jeck N, Barth P et al. Barttin increases surface expression and changes current properties of ClC-K channels. Pflugers Arch. Eur J Physiol 2002; 444(3): 411–8.
• Referans16 Simon DB, Karet FE, Hamdan JM, et al. Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996; 13(2):183–8.
• Referans17 Rossi GM, Regolisti G, Peyronel F, Fiaccadori E. Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery. J Nephrol 2020;33(3):447–66.
• Referans18 Fulchiero R, Seo-Mayer P. Bartter Syndrome and Gitelman Syndrome. Pediatr Clin North Am 2019;66(1):121-34.
• Referans19 Peters M, Jeck N, Reinalter S, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 2002;112(3):183–90.
• Referans20 Bhat YR, Vinayaka G, Sreelakshmi K. Antenatal Bartter syndrome: a review. Int J Pediatr 2012;2012:857136.
• Referans21 Finer G, Shalev H, Birk OS, et al. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr 2003;142(3):318–23.
• Referans22 James T, Holland NH, Preston D. Bartter syndrome. Typical facies and normal plasma volume. Am J Dis Child 1975;129(10):1205–7.
• Referans23 Fazilaty H, Behnam B. Molecular genetics of Bartter syndrome. J Ped Nephrol 2014;1(3):6–14.
• Referans24 Amar A, Majmundar AJ, Ullah I, et al. Gene panel sequencing identifes a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet 2019;138(3):211–9.
• Referans25 Seys E, Andrini O, Keck M, et al. Clinical and genetic spectrum of Bartter syndrome type 3. J Am Soc Nephrol 2017;28(8):2540–52.
• Referans26 Schlingmann KP, Konrad M, Jeck N, et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 2004;350(13):1314–9.
• Referans27 Kömhof M, Lagmani K. MAGED2: a novel of antenatal Bartter’s syndrome. Curr Opin Nephrol Hypertens 2018;27(4):323–8.
• Referans28 Laghmani K, Beck BB, Yang SS, et al. Polyhydramnios, transient antenatal Bartter’s syndrome, and MAGED2 mutations: case report. N Engl J Med 2016;374(19):1853–63.
• Referans29 Abou Tayoun AN, Spinner NB, Rehm HL, et al. Prenatal DNA sequencing: clinical, counseling and diagnostic laboratory considerations. Prenat Diagn 2018;38(1):26–32.
• Referans30 Brochard K, Boyer O, Blanchard A, et al. Phenotype-genotype correlation in antenatal and antenatal variants of Bartter syndrome. Nephrol Dial Transplant 2009;24(5):1455–64.
• Referans31 Kömhof M, Lagmani K. Pathophysology of antenatal Bartter’s syndrome. Curr Opin Nephrol Hypertens 2017;26(5):419–25.
• Referans32 Meyer M, Berrios M, Lo C. Transient antenatal Bartter’s syndrome: a case report. Front Pediatr 2018;6:51.
• Referans33 Hussain S, Tarar SH, Al-Muhaizaen M. A Rare disorder with common clinical presentation: neonatal Bartter syndrome: case report : J Coll Phys Surg Pak 2015;25(Suppl 1):S58–60.
• Referans34 Garnier A, Dreux S, Vargas-Poussou R, et al. Bartter syndrome prenatal diagnosis based on amniotic fuid biochemical analysis. Pediatr Res 2010;67(3):300–3.
• Referans35 Hegde D, Mondkar J, Abdagire N. Neonatal Bartter syndrome in an extremely low birth weigth baby. case report : Saudi J Kidney Dis Transpl 2017;28(5):1162–4.
• Referans36 Dos Reis GS, de Miranda DM, de Barros Pereira PC, et al. Application of molecular biology at the approach of Batter’syndrome: case report. J Bras Nefrol 2011;34(1):82–6.
• Referans37 Han Y, Lin Y, Sun Q, et al. Mutation spectrum of chinese patients with Bartter syndrome. Oncotarget 2017;8:101614–22.
• Referans38 Laghmani K, Beck BB, Yang SS, et al. Polyhydramnios, transient antenatal Bartter’s syndrome, and MAGED2 mutations N Engl J Med 2016;374:1853–63.
• Referans39 Legrad A, Treard C, Rocelin I, et al. Prevalence of novel MAGED2 mutations in antenatal Bartter syndrome. Clin J Am Soc Nephrol 2018;13:242–50.
• Referans40 Cha EJ, Hwang WM, Yun SR, et al. An adult case of Bartter syndrome type III presenting with proteinuria. J Pathol Transl Med 2016;50:160–4.
• Referans41 Lee SE, Han KH, Jung YH, et al. Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis. Korean J Pediatr 2011;54:36–9.
• Referans42 Garcia Castaño A, de Nanclares GP, Madariaga L, et al. Poor phenotype-genotype association in a large series of patients with type III Bartter syndrome. PLoS One 2017;12:e0173581.
• Referans43 Cheng CJ, Lo YF, Chen JC, et al. Functional severity of CLCNKB mutations with phenotypes in patients with classic Bartter’s syndrome. J Physiol 2017;15:5573–86.
• Referans44 de la Gómez FCL, Novoa PJM, Caviedes RN. Bartter syndrome: an infrequent tubulopathy of prenatal onset. Rev Chil Pediatr 2019;90:437–42.
• Referans45 Gollasch B, Anistan YM, Canaan-Kuhl S, et al. Late-onset Bartter syndrome type II. Clin Kidney J 2017;10:594–9.
• Referans46 Vaisbich MH, Fujimura MD, Koch VH. Bartter syndrome: benefts and side efects of long-term treatment. Pediatr Nephrol 2004;19(8):858–63.
• Referans47 Nüsing RM, Reinalter SC, Peters M, et al. Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. Clin Pharmacol Ther 2001;70(4):384–90.
• Referans48 Mukherjee D, Nissen SE, Topol EJ. Risk of cardiovascular events associated with selective COX-2 inhibitors. JAMA 2001;286(8):954–9.
• Referans49 Hegde D, Mondkar J, Abdagire N. Neonatal Bartter syndrome in an extremely low birth weigth baby. Saudi J Kidney Dis Transpl 2017;28(5):1162–64.
• Referans50 Luqman A, Kazmi A, Wall BM. Bartter’s syndrome in pregnancy: review of potassium homeostasis in gestation. Am J Med Sci 2009;338(6):500–4.
• Referans51 Dos Reis GS, de Miranda DM, de Barros Pereira PC, et al. Application of molecular biology at the approach of Batter’syndrome: case report. J Bras Nefrol 2012;34(1):82-6.
• Referans52 Nascimento CLP, Garcia CL, Schvartsmana BGS, et al. Treatment of Bartter syndrome. Unsolved issue. J Pediatr (Rio J) 2014;90(5):512-7.
• Referans53 Nagao R, Suzuki S, Kawashima H, et al. Acute kidney injury in type 3 Bartter syndrome: angiotensin-converting enzyme inhibitors as a cause. Pediatr Int 2016;58(12):1373-4.
• Referans54 Mazaheri M, Assadi F, Sadeghi-Bojd S. Adjunctive acetazolamide therapy for the treatment of Bartter syndrome. Int Urol Nephrol 2020;52(1):121-128.