Öz
Bartter sendromunun neonatal varyantı, intrauterin dönemde başlayan poliürinin neden olduğu ciddi polihidramniyoz ile karakterize otozomal resesif geçişli nadir bir doğumsal renal tübüler bozukluktur. Ağır klinik seyri nedeniyleyaşamı tehdit eden bir durumdur. Burada neonatal Bartter sendromu tanısı konulan iki olgu nadir görülmesi nedeniyle ve uygun sıvı-elektrolit desteğiyle birlikte indometazin tedavisinin erken dönemde başlanmasının doğru bir yaklaşım olacağının vurgulanması amacıyla sunuldu.
Anahtar Kelimeler
Neonatal Bartter sendromu renal tübüler bozukluk preterm doğum polihidramniyoz nefrokalsinozis indometazin
Kaynakça
- Bartter FC, Pronove P, Gill JR Jr, MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hy- pokalemic alkalosis. A new syndrome. 1962. J Am Soc Nephrol 1998;9(3):516-28.
- Rodriguez-Soriano J. Tubular disorders of electrolyte regulation. In: Barratt TM, Avner ED, Harmon WE (eds). Pediatric Nephrolo- gy. 4th ed. Baltimore: Lippincott Williams& Wilkins, 1999: 545-63.
- Rodriguez-Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 1998;12(4):315-27.
- Heffernan A, Steffensen TS, Gilbert-Barness E, Perlman S. Bartter syndrome presenting as poor weight gain and abdominal mass in an infant. Fetal Pediatr Pathol 2008;27(4-5):232-43.
- Mourani CC, Saniad SA, Akatcherian CY. Bartter syndrome in a neonate: early treatment with indomethacin. Pediatr Nephrol 2000;14(2):143-5.
- Bagga A, Bajpai A, Menon S. Approach to renal tubular disorders. Indian J Pediatr 2005;72(9):771-6.
- Nesterova G, Gahl WA. Cystinosis. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds). GeneReviews [Internet]. Seattle (WA): Uni- versity of Washington, Seattle, 1993-2001.
- Mersin SS, Ramelli GP, Laux-End R, Bianchetti MG. Urinary chloride excretion distinguishes between renal and extrarenal met- abolic alkalosis. Eur J Pediatr 1995; 154(12):979-82.
- Colussi G, Rombola G, Airaghi C, De Ferrari ME, Minetti L. Pseudo-Bartter’s syndrome from surreptitious diuretic intake: differential diagnosis with true Bartter’s syndrome. Nephrol Dial Transplant 1992;7(9):896-901.
- D’Avanzo M, Santinelli R, Tolone C, Bettinelli A, Bianchetti MG. Concealed administration of frusemide simulating Bartter syn- drome in a 4.5-year-old boy. Pediatr Nephrol 1995;9(6):749-50.
- Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Bartter’s and Gitelman’s syndromes: from gene to clinic. Neph- ron Physiol 2004;96(3):65-78.
- Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Ma- cher MA, et al. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant 2009;24(5):1455-64.
- Kumar PS, Deenadayalan M, Janakiraman L, Vijayakumar M. Neonatal Bartter syndrome. Indian Pediatr 2006;43(8):735-7.
- Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford LM. Bartter syndrome in Costa Rica: a description of 20 cases. Pediatr Nephrol 1997;11(3):296-301.
- Mackie FE, Hodson EM, Roy LP, Knight JF. Neonatal Bartter syn- drome-use of indomethacin in the newborn period and prevention of growth failure. Pediatr Nephrol 1996;10(6):756-8.
- Matsumoto J, Han BK, Restrepo de Rovetto C, Welch TR. Hy- percalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin. AJR Am J Roentgenol 1989;152(6):1251-3.
Öz
Neonatal Bartter’s syndrome is a rare autosomal recessive congenital renal tubular disorder that characterized by severe polyhydramnios resulting from intrauterine onset polyuria. It is a life-threatening condition because of its severe clinic course. We report here two rare cases of neonatal Bartter’s syndrome in order to stress that early indomethacin treatment in addition to appropriate fluid and electrolyte support would be an appropriate approach
Anahtar Kelimeler
Neonatal Bartter’s syndrome renal tubular disorder premature delivery polyhydramnios nephrocalcinosis indomethacin
Kaynakça
- Bartter FC, Pronove P, Gill JR Jr, MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hy- pokalemic alkalosis. A new syndrome. 1962. J Am Soc Nephrol 1998;9(3):516-28.
- Rodriguez-Soriano J. Tubular disorders of electrolyte regulation. In: Barratt TM, Avner ED, Harmon WE (eds). Pediatric Nephrolo- gy. 4th ed. Baltimore: Lippincott Williams& Wilkins, 1999: 545-63.
- Rodriguez-Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 1998;12(4):315-27.
- Heffernan A, Steffensen TS, Gilbert-Barness E, Perlman S. Bartter syndrome presenting as poor weight gain and abdominal mass in an infant. Fetal Pediatr Pathol 2008;27(4-5):232-43.
- Mourani CC, Saniad SA, Akatcherian CY. Bartter syndrome in a neonate: early treatment with indomethacin. Pediatr Nephrol 2000;14(2):143-5.
- Bagga A, Bajpai A, Menon S. Approach to renal tubular disorders. Indian J Pediatr 2005;72(9):771-6.
- Nesterova G, Gahl WA. Cystinosis. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds). GeneReviews [Internet]. Seattle (WA): Uni- versity of Washington, Seattle, 1993-2001.
- Mersin SS, Ramelli GP, Laux-End R, Bianchetti MG. Urinary chloride excretion distinguishes between renal and extrarenal met- abolic alkalosis. Eur J Pediatr 1995; 154(12):979-82.
- Colussi G, Rombola G, Airaghi C, De Ferrari ME, Minetti L. Pseudo-Bartter’s syndrome from surreptitious diuretic intake: differential diagnosis with true Bartter’s syndrome. Nephrol Dial Transplant 1992;7(9):896-901.
- D’Avanzo M, Santinelli R, Tolone C, Bettinelli A, Bianchetti MG. Concealed administration of frusemide simulating Bartter syn- drome in a 4.5-year-old boy. Pediatr Nephrol 1995;9(6):749-50.
- Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Bartter’s and Gitelman’s syndromes: from gene to clinic. Neph- ron Physiol 2004;96(3):65-78.
- Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Ma- cher MA, et al. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant 2009;24(5):1455-64.
- Kumar PS, Deenadayalan M, Janakiraman L, Vijayakumar M. Neonatal Bartter syndrome. Indian Pediatr 2006;43(8):735-7.
- Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford LM. Bartter syndrome in Costa Rica: a description of 20 cases. Pediatr Nephrol 1997;11(3):296-301.
- Mackie FE, Hodson EM, Roy LP, Knight JF. Neonatal Bartter syn- drome-use of indomethacin in the newborn period and prevention of growth failure. Pediatr Nephrol 1996;10(6):756-8.
- Matsumoto J, Han BK, Restrepo de Rovetto C, Welch TR. Hy- percalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin. AJR Am J Roentgenol 1989;152(6):1251-3.
Ayrıntılar
| Diğer ID | JA96ZK34ZG |
|---|---|
| Bölüm | Research Article |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Ağustos 2011 |
| Gönderilme Tarihi | 1 Ağustos 2011 |
| Yayımlandığı Sayı | Yıl 2011 Cilt: 5 Sayı: 2 |