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Familial idiopathic hypercalciuria
Insights
Idiopathic hypercalciuria, a cause of kidney stones, runs in families. This condition appears to be inherited as an autosomal dominant trait, affecting first-degree relatives most frequently.
Area of Science:
- Nephrology
- Medical Genetics
Background:
- Idiopathic hypercalciuria is a common metabolic disorder.
- Recurrent calcium oxalate renal stones are a significant clinical manifestation.
Purpose of the Study:
- To investigate the familial occurrence of idiopathic hypercalciuria.
- To determine the mode of inheritance for this condition.
Main Methods:
- Family studies were conducted on nine probands with idiopathic hypercalciuria.
- Hypercalciuria and renal stone history were assessed in 73 relatives across multiple generations.
Main Results:
- Idiopathic hypercalciuria was found in 26 of 73 relatives (35.6%).
- The condition was observed in three generations in two families and two generations in four families.
- Nineteen of 44 first-degree relatives (43.2%) had idiopathic hypercalciuria, compared to 7 of 29 other relatives (24.1%).
- Renal stones occurred in 19 of 44 first-degree relatives (43.2%).
Conclusions:
- A familial form of idiopathic hypercalciuria exists.
- The trait appears to be transmitted as an autosomal dominant characteristic.
- Stone disease is prevalent in first-degree relatives and affects both sexes equally.
Abstract:
The frequency of hypercalciuria was determined in the families of nine hypercalciuric patients with idiopathic hypercaliuria who formed recurrent calcium oxalate renal stones. Idiopathic hypercalciuria occurred in 26 of 73 relatives, in three consecutive generations of two families and in two successive generations of four other families. Multiple siblings or children of the probands were affected in three families. Nineteen of 44 first-degree relatives (43 per cent) had idiopathic hypercalciuria, as compared to seven of 29 (29 per cent) other relatives; there was no relation to age or sex. Renal stones were formed by 19 of the 44 first-degree relatives but by none of the others; nine of the 19 were women. We conclude that there is a familial form of hypercalciuria, which appears to be transmitted as an autosomal dominant trait. Stone disease is frequent in first-degree relatives, and affects both sexes equally.