An unusual DMSA scan: answer
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Alison Timmis & Caroline Jones & Fauzia Paize
- چاپ و سال / کشور: 2011
Description
A further renal ultrasound scan at the age of 6 years showed nephrocalcinosis. In view of the proteinuria, the patient was started on enalapril. The family had previously refused the use of oral citrate or a thiazide as they viewed the child to be asymptomatic but were prepared to introduce a noadded- salt diet and encourage adequate fluid intake. The use of oral citrate was considered unpalatable and they were reluctant to introduce a thiazide because of the potential side-effects and that there was no guarantee of improved clinical outcome. Subsequent genetic analysis has revealed a mutation p.Gly57Arg in the CLCN5 gene confirming the diagnosis. This mutation has not been described before, but is felt to be pathogenic, as pGly57Val has previously been identified as a pathogenic mutation [1].
Pediatr Nephrol DOI 10.1007/s00467-011-1914-x Received: 10 November 2010 / Revised: 28 April 2011 / Accepted: 29 April 2011
