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Nephrocalcinosis in three siblings with idiopathic hypercalciuria
P Eggert1, D Müller, T Schröter
1Universitäts-Kinderklinik, Kiel, Germany.
Pediatric Nephrology (Berlin, Germany)
|April 16, 1998
Summary
Idiopathic hypercalciuria (IH) with nephrocalcinosis affected three siblings. Treatment with hydrochlorothiazide normalized calcium excretion, suggesting a potential genetic basis for this rare complication.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Idiopathic hypercalciuria (IH) is a common cause of nephrolithiasis in children.
- Nephrocalcinosis is a rare complication of renal IH.
Observation:
- Three of six siblings presented with idiopathic hypercalciuria and nephrocalcinosis.
- Affected children showed increasing hypercalciuria, parathyroid hormone, and vitamin D3 levels on a low-calcium diet.
Findings:
- Renal idiopathic hypercalciuria was diagnosed without an oral calcium loading test.
- Hydrochlorothiazide treatment effectively normalized urinary calcium excretion in affected siblings.
Implications:
- The familial occurrence suggests a possible genetic etiology for renal IH associated with nephrocalcinosis.
- This case challenges the notion that nephrocalcinosis is rare in renal IH and warrants further genetic investigation.