A Case of Adult onset Bartter Syndrome with Nephrocalcinosis
نویسندگان
چکیده
منابع مشابه
Nephrocalcinosis as adult presentation of Bartter syndrome type II.
Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCN...
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Neonatal Bartter syndrome (NBS) is an inherited renal tubular disorder associated with hypokalemic alkalosis. Here we report a case of genetically diagnosed NBS. Polyhydramnios was noted at 26 weeks. A boy was born at 31 weeks and 1 day, weighed 1344 g, and had an Apgar score of 8/8. We initiated indomethacin (IND) at a dose of 0.2 mg/kg/d on day 31, and increased it to approximately 3 mg/kg/d....
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متن کاملLate-onset Bartter syndrome type II
Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalci...
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Bartter's Syndrome is characterized by renal potassium wasting with hypokalemia, metabolic alkalosis, increased renin-angiotensin-aldosterone system, normal blood pressure, resistance to the pressor effects of angiotensin II and juxtaglomerular cell hyperplasia. Most of the cases have been noted in the pediatric age group and adult-onset cases are very rare. We report a case of adult-onset Bart...
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ژورنال
عنوان ژورنال: Kosin Medical Journal
سال: 2014
ISSN: 2005-9531
DOI: 10.7180/kmj.2014.29.1.75