Congenital and Hereditary Renal Diseases in the Cairo Kidney Center: Review of the presenting Symptoms and Outcome –Any place for Screening?

Document Type : Original Article


Departments of Pediatrics, Ahmed Maher Teaching Hospital, and Internal Medicine, Nephrology Department.


Objectives: The aim of this study was to determine the prevalence of various congenital and hereditary renal diseases in patients attending at the Cairo Kidney Center. Methods: The files of 104 patients diagnosed as congenital or hereditary renal conditions were analyzed. There were 89 adult patients, and 15 children, less than 18 years. The youngest patient was 2 years and the oldest 72 years old. Results: There were 39 patients suffering from autosomal dominant polycystic Kidney disease (ADPKD), 25 patients presenting with different congenital anomalies, 11 patients with obstructive uropathy, 6 patients with Alport՚s syndrome, and 23 with variable other conditions. Of these 104 patients, 53 were in renal failure, 29 because of ADPKD, and 24 due to other congenital or hereditary conditions. The study evaluated the presence of a family history of a similar condition, the absence of family history, or an unknown family history. A positive family history for ADPKD was found in 14 patients, yet only one patient from these families presented to screen for ADPKD. In one patient renal failure was diagnosed when she sought medical advice for intrauterine fetal death. She was twenty years old and had urinary incontinence since early childhood. Conclusions: The study highlights the poor awareness of the families and their treating doctors of the importance of early detection and treatment of congenital and hereditary renal diseases. The elucidation of the degree of awareness, in families with hereditary renal diseases and their treating doctors, is of great importance for early detection of renal conditions and improving the outcome.