Renal abnormalities in patients with Kallmann syndrome

Objective To report experience in patients with Kallmann syndrome (KS) in w hom urography was used to establish the type and frequency of renal anomali es associated with the disorder. Patients and methods Of 19 patients with KS, 15 had the X-linked recessive form of the disease, whereas the remaining four were sporadic. Each patient underwent intravenous pyelography (NP) using a non-ionic, low osmolarity c ontrast medium, Results Of the 19 patients with KS, 10 had kidney abnormalities; four prese nted with unilateral renal agenesis and six had less severe forms of renal abnormality (renal malrotation in four and bilateral dilatation of the caly ces and pelves in two). One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS . Three of the four patients with renal malrotation had a confirmed K-linke d recessive form and one carried a point mutation in KAL. Conclusion These results suggest that kidney abnormalities are more frequen t and diverse in patients with KS than previously reported. They also indic ate that defects in the KAL gene may contribute to abnormal renal developme nt. However, a review of the literature revealed no close correlation betwe en KAL mutations and kidney;anomalies in the X-linked type of disease. Take n together, these data suggest that KAL mutations are not invariably associ ated with failure of renal development and that additional factors (epigene tic or local) may compensate for defects in the KAL protein.