Familial multiple endocrine neoplasia type I: the urologist is first on the scene

To study the urological manifestations of familial multiple endocrine neoplasia type 1 (MEN-1).

The study included 26 adults (median age 38.5 years, range 18-80) from two unrelated MEN-1 pedigrees. In 15 of the patients the diagnosis was confirmed by genetic analysis, while in the rest the diagnosis was based on clinical criteria combined with genealogy data.

Urolithiasis associated with primary hyperparathyroidism was present in 65% of MEN-1 patients and in 77% of those who were symptomatic. In 68% of patients complications of urolithiasis (renal/ureteric colic, urinary tract infection) were the presenting clinical manifestations of MEN-1, whereas in 50% they constituted the only clinical manifestation of the syndrome. The mean time from the onset of symptoms of urolithiasis to the diagnosis of the polyendocrinopathy was 17.2 years. Initial failure to recognize the presence of MEN-1 in patients with primary hyperparathyroidism led to conservative parathyroid surgery, with subsequent relapse of the hyperparathyroidism, requiring re-operation. Serious renal morbidity included one case of pyonephrosis necessitating nephrectomy. While urolithiasis was a cardinal clinical manifestation of MEN-1, there was otherwise considerable phenotypic polymorphism, even among patients bearing the same MEN1 gene mutation.

In patients with familial MEN-1 the complications of urolithiasis are the commonest presenting clinical manifestations and the cause of significant morbidity. In the presence of a family history of renal stones, appropriate investigations may lead to the timely diagnosis of this important, albeit rare, disorder.