Hasan ÖNAL, Oya ERCAN, Erdal ADAL

Bartter sendromu

Bartter Sendromu, hipokalemik metabolik alkaloz, sekonder hiperaldosteronizm ve hiperreninemiye karşın normal sınırlarda kan basıncı ve jükstaglomerüler hiperplazi ile belirgindir. Çocuklarda somatik gelişme geriliğinin nadir görülen nedenlerinden biridir. Bartter sendromu'nun klinik ve genetik açıdan üç farklı şekli bildirilmiştir. Neonatal Bartter sendromu, klasik Bartter sendromu ve Gitelman sendromu adı verilen bu varyasyonlar "Bartter benzeri sendrom" başlığı altında birleştirilmiştir.

Bartter syndrome

Bartter syndrome is characterized by hypokalemia, metabolic alkalosis and, secondary hyperaldosteronism in the presence of normal blood pressure and juxtaglomemlar hyperplasia. It is a rare cause of growth failure in children. Three variants of Bartter syndrome were described with respect to clinical and genetic findings. These variatons, namely neonatal Bartter syndrome, classic Bartter syndrome and Gitelman syndrome, were united under the heading of "Bartter like syndrome".

PDF

___

1. Bartter FC, Pronöve P, Gill JR Jr, MacCardle RC. Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med 1962; 33: 811- 28.
2. Rodriguez-Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr NephroL 1998; 12: 315- 27.
3. Mersin SS, Ramelli GP, Kaux-End R, Bianchetti MG. Urinary chloride excretion distinguishes between renal and extrarenal metabolic alkalosis. Eur J Pediatr 1995; 154: 979- 82.
4. Colussi G, Rambolâ G, Airaghi C, De Ferrari ME, Minetti L. Pseudo-Bartter's syndrome from surreptitious diuretic intake: differential diagnosis with ttue Banter's syndrome. Nephrol Dial Transplant 1992; 7: 896- 901.
5. D'AvanzO M, Santinelli R, Tolone C, Betinelli A, Bianchetti MG. Concealed administration of frusemide simulating Bartter syndrome in a 4.5-year-old boy. Pediatr Nephrol 1995; 9: 749-50.
6. Su IH, Frank R, Gauthier BG, et al. Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases. Pediatr Nephrol. 2000; 14: 970- 2.
7. Yamamoto T, Watanabe T, Ikegaya N, et al. Expression of types I, II, and IE TGF-beta receptors in human glomerulonephritis. J Am Soc Nephrol. 1998; 9: 2253- 61.
8. Yamamoto T, Noble NA, Cohen AH, et al. Expression of transforming growth factor-beta isoforms in human glomerular diseases. Kidneys Int 1996; 49: 461-9.
9. Klahr S, Morrissey J. Angiotensin II and gene expression in the kidney. Am j Kidney Dis 1998; 31: 171- 6.
10. Proesmans W, Devlieger H, Van Assche A, et al. Bartter syndrome in two siblings. Antenatal arid neonatal observations. Int J Pediatr Nephrol 1985; 6: 63- 70.
11. Simon DB, Karet FE, Hamdan JM, et al. Bartter's syndrome, lıypoigajemie ajkalosjs with hypejsaldwria, iş eaussd by muttons in the Nar-K 2 Cl eotransportesr NKÇC2, Nat Genet 1966; 13:183-8.
12, Simon DB, Karet HE, Rodriguez-Soriano J, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel RQMK. Nat Genet 1997; 14:152-6.
13, Simon DB, Bindra RS, Nelson-Williams C, et al. Mutations in the chloride channel ClC-Kb cause Bartter's syndrome type IH. Nat Genet 1997; 17; 171- 8.
14, Gitelman HJ, Graham JB; Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia, Trans assoe Am Physicians 1966; 79: 221- 33,
15, Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Q eotransporter. Nat Genet 1996; 12; 24. 30.
16, James T, Holland NH, Preston D, Bartter syndome; typical fades and normal plasma volume. Am J Dis Child 1975; 129: 1205-7,
17, Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford L. Bartter syndrome in Costa Rica: a description of 20 cases. Pediatr Nephrol 1997; 11: 296- 301.
18. Landau D, Shalev H, Ohaly M. Carmi R. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 1995; 59: 454- 9.
19. Proesmans W, Massa G, Vandersehueren K, Assche AV. Prenatal diagnosis in Bartter syndrome. Lancet 1987; I; 394.
20. Konrad M, Köckerling A, Leonhardt A, Karolyi L, Seyberth HW. Pre and postnatal diagnosis of hyperprostaglandin E syndrome following molecular diagnosis from amniocytes. J Am Soe Nephrol 1997; 8: 90A.
21. Seyberth HW, Raseher W, Schweer W, Ktihl PG, Mehls O, Seharer K, Congenital hypokalemia with hyperealciuria, in preterm infants; a hyperprostaglandinuric tubular syndrome different from Bartter syndrome, J Pediatr 1985; 107: 694-701,
22. Proesmans W, Bartter syndrome and its neonatal variant. Eur J Pediatr 1997; 156: 669.79,
23. Wong W, Hulton SA, Taylor CM, Raafftt F, Lote ÇJ, Lindep G. A ease of neonatal Bartter's syndrome- Pediatr Nephrol 1997; 10: 414- 8,
24, Rovetto CR de, Welch TR, Hug Ç, Clark KB, Bergstrom W. Hypercalciuria with Bartter syndrome: evidence for an abnormality of vitamin D metabolism. J Pediatr 1989; U5; 397- 404.
25. Shoemaker L, Welch TR, Beigstrom W, Abrams SA, Yergey AL, Vieira N. Calcium kinetics in the hyperprostaglandin E syndrome. Pediatr Res 1993; 33:92- 6.
26, Reichel H, Deibert B, Geberth S, Schmidt-Gayk H, Ritz E. Furosemide therapy and intact parathyroid hormone plasma concentrations in chronic renal insufficiency. Nephrol Dial Transplant 1992; 27: 8-15.
27, Kockerling A, Reinalter SC, Sayberth HW, Impaired response to furosemide in hypşrprostaglandin E syndrome: Evidence for a tubular defect in the loop of Henle, J Pediatr 1996; 129; 519-28.
28, Shoemaker LE, BargsUrom W, Ragosta K, Welch TR, Humoral factor in children with neonatal Bartter syndrome reduces bone calcium uptake in vitro. Pediatr Nephrol 1998; 12: 371-6
29, Bettinelli A. dajmatori S, Cesşreo L, et al. Phenotypie variability in Bartter syndrome type I, Pediatr Naphrol 2Q00; 14; 940-5.
30, Shalev H, Ohali M, Abramson O, Phillip M. Nephrocalcinosis in pseudohypoaldosteronism and the effect of indomethacin therapy. J Pediatr 125:246- 8.
31, Konrad M, Weber S, Recent advances in molecular genetics of hereditary magnesium-loşing disorders. Am Soc Nephrol 2003; 14: 249- 60.
32, Langhendries JP, Thiry V, Bodart E, et al, Exogenous prostaglandin administration and pseudo-Bartter syndrome. Eur J Pediatr 1989; 149: 208- 9,
33, Alpan G, Eyal F, Virogrow I. Localised intestinal perforations after enteral administration of indomethacin in premature infants. Eur J Pediatr 1985; 106:277-81.
34, Mackie FE, Hodson EM, Roy LP, Knight JF, Neonatal Bartter syndrome- use of indomethacin in the newborn period and prevention of growth failure, Pediatr Nephrol 1996; 10:756-8,
35, Mourani CC, Sanjad SA, Akatcherian CY. Bartter syndrome in a neonate; early treatment with indomethacin, Pediatr Nephrol 2000; 14:143- 5.
36, Reinalter Ş, Devlieger H, Proesmans W, Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms, Pediatr Nephrol 1998; 12; 186. 8.
37, Madrigal Q, Saborio P, Mora F, Rineon G, Guay-Woodford L, Bartter syndrome in Costa Rica: a description of 20 cases. Pediatr Nephrol 1997; 11: 296- 301.
38, Ruvalcaba RH, Martmez; FE. Case report: familial growth hormone deficiency associated with Bartter's syndrome. Am j Med Sci 1992;303:411-4.
39. Torres VE, Young WF, Offord KP, Hattery RR. Association of hypokalemia, aldosteronism and renal cysts. N Engl J Med 1990; 322-345-51.
40. Moudgil A, Bagga A, Germain BM, Klein AH. Neonatal Bartter's syndrome with hyperkalemia and normal urinary prostaglandin E2. Pediatr Nephrol 1997; 11: 387- 8.
41. Egido J. Vasoactive hormones and renal sclerosis. Kidney Int 1996; 49: 578- 9.
42. Rodriguez-Soriano J, Vallo A, Oliveros R. Bartter's syndrome presenting with features resembling renal tubular acidosis. Improvement of renal tubular defects by indomethacin. Helv Paediatr Acta 1978; 33: 141- 51.
43. Balat A, Çekmen M, Yürekli M, et al. Adrenomedullin and nitrit levels in children with Bartter syndrome. Pediatr Nephrol 2000;15: 266- 70.
44. Güllner HG, Bartter FC, Gül JR Jr, Dickman PS, Wilson CB, Tiwari JL. A sibship with hypokalemic alkalosis and renal proximal tubulopathy. Arch Intern Med 1982; 143: 1534- 40.
45. Goto Y, Itami N, Kajii N, Tochimam H, Endo M, Horai S. Renal tubular involvement mimicking Bartter syndrome in a patient with Kearn-Sayre syndrome. J Pediatr 1990; 116: 904-10.
46. Ercan O, Ercan G, Onal H, et al. Bartter syndrome: A rare cause of polyuria and polydipsia in endocrine practice. Hormone Research. ESPE / LWPES 7th Joint Meeting Paediatric Endocrinology. Lyon, France September 21-24, 2005: 332.
47. Hene RJ, Koomans HA, Dorhout Mees EJ, Stolpe A, Verhoef GEG, Boer P. Correction of hypokalemia in Bartter's syndrome by enalapril. Am J Kidney Dis 1987; 9: 200- 5.
48. Scherling B, Verder H, Nielsen MSD, Christensen P, Giese J. Captopril treatment in Bartter's syndrome. Scand J Urol Nephrol 1990; 214: 123-5.
49. Kannan S, Delph Y, Moseley HS. Anaesthetic management of a child with Bartter's syndrome. Can J Anaesth 1995; 42: 808- 12.
50. Marco-Franco JE, Morey A, Ventura C, Gasco JM, Alarcon A. Long-term evolution and growth patterns in family with Bartter's syndrome. Clin Nephrol 1994; 42: 33- 7.
51. Betinelli A, Metta MG, Perini A, Basilico E, Santeramo C. Long-term evolution of a patient with Gitelman's syndrome. Pediatr Nephrol 1994; 7: 67 8.
52. Smilde TJ, Haverman JF, Schipper P, et al. Familial hypokalemia/ hypomagnesemia and chondrocalcinosis. J Rheumatol 1994; 21:1515-9.
53. Liithy C, Betinelli A, Iselin S, et al. Normal prostaglandinuria E2 in Gitelman's syndrom, the hypocalciuric variant of Bartter's syndrome. Am J Kidney Dis 1995; 25: 824- 8.
54. Bettenelli A, Bianchetti MG, Girardin E, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 1992; 120: 38- 43.
55. Colussi G, Rombola G, De Ferrari ME, Macaluso M, Minetti L. Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome. Am J Nephrol 1994; 14: 127- 35.