Liver cysts in Congolese patients with autosomal dominant polycystic kidney disease follow a family pattern.

BACKGROUND: It is now well established that at least two genes are associated with autosomal dominant polycystic kidney disease (ADPKD). OBJECTIVE: To analyse the clinical expression of ADPKD in Congolese patients and to compare ADPKD expression between families. METHODS: Following informed consent, ADPKD patients admitted to Brazzaville University Hospital (Congo) were reviewed and their relatives aged 20 years and older were screened by means of a clinical examination, abdominal ultrasound, urinalysis and determination of serum creatinine. RESULTS: We found 7 patients with ADPKD, belonging to 7 distinct families, and identified 100 relatives of whom 50, aged from 20 to 68 years, were diagnosed as having ADPKD. Polycystic kidney disease was associated with polycystic liver in 4 families. In the remaining 3 families no liver cysts were found. No family had a mixture of members with kidney cysts only and members with kidney and liver cysts. This finding was age-independent. CONCLUSION: Liver cysts follow a family pattern in our ADPKD patients. We suggest that our patients may carry at least two different genes for ADPKD, one of which may be associated with renal cysts alone and other with both renal and liver cysts.