Renal affection in inherited metabolic diseases : A single center experience / Sherif Adel Elsayed Elgamily ; Supervised Sawsan Abdelhadi Hassan , Samuel Helmi Makar , Safaa Mohamed Abdelrahman

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Objective: Shedding light on the importance of renal complications and renal manifestations associated with inherited metabolic disorders and their significance in suspicion and diagnosis, and to determine the prevalence and types of different renal affections in patients diagnosed with inherited metabolic disorders in Inherited Metabolic Diseases clinic.Methods: We retrospectively reviewed the records of patients referred to inherited metabolic disorders clinic of Cairo University Children Hospital over the past 5 years for patients who reached the diagnosis of an inherited metabolic disorder and showing a renal affection. Data of these patients including history, clinical examination and investigations were collected. SPSS 21.0 software was used to obtain the descriptive and analytical statistics.Results: We explored 3116 patient{u2019}s records representing the patients that were referred to the inherited metabolic disorders clinic over the past 5 years suspected to have an Inherited Metabolic Disease from which 428 reached a final diagnosis of an Inherited Metabolic Disease. The study of those 428 patients yielded 27 patients (6.3%) with renal manifestations. We found 5 main categories of renal affection in the selected 27 patients, 11 patients (40.7%) showed abnormality in the colour of urine, 7 (25.9%) tubulopathy, 5 (18.5%) nephrolithiasis, 3 (11.1%) abnormal urine odour and 1 (3.7%) ectopic kidney. Consanguinity was found in 19 cases (70.4%)

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