Clinical Profile and Outcomes of Patients with the Most Common Hereditary Kidney Diseases at a Tertiary Care Hospital

Abstract

Background: Hereditary kidney diseases are an important cause of chronic kidney disease worldwide. Among these, Autosomal dominant polycystic kidney disease and Alport syndrome are the most common hereditary kidney diseases, leading to high blood pressure, progressive deterioration of kidney function and is responsible for a considerable portion of patients receiving hemodialysis globally. Objective: To evaluate the clinical presentation, renal involvement, complications, and disease characteristics and outcomes of patients with the most common hereditary kidney disease that Autosomal Dominant Polycystic Kidney Disease and Alport syndrome, attending a tertiary care hospital in Bangladesh. Methods: This prospective observational study was conducted over a period of 4 years 2022-2025 at the Department of Nephrology, Bangladesh Medical University, Dhaka, Bangladesh. A total of 170 patients, including 150 with polycystic kidney disease and 20 with Alport syndrome, were enrolled. Both group of patients were evaluated for clinical characteristics, family history, comorbidities, physical examination findings, laboratory investigations, imaging and renal function. Results: A total of 170 patients with 150 had polycystic kidney disease and 20 had Alport syndrome were enrolled, including polycystic kidney disease patients 90 (60%) males and 60 (40%) females and cyst burden increased progressively with advancing age. Among 20 patients with a Male to Female ratio 19:1, mean age 20±8 years, Among patients with Alport syndrome, 30% exhibited fleck retinopathy, 75% had sensorineural deafness and a family history of kidney disease, and anterior lenticonus was identified in 20% of cases. Renal involvement was universal among patients with Alport syndrome. All patients (100%) had mild-to-moderate proteinuria, while nephrotic-range proteinuria was present in 80%. End-stage kidney disease was observed in 75% of patients, microscopic hematuria in 70%, hypertension in 60%, and gross hematuria in 25%. In contrast, among patients with polycystic kidney disease (, hypertension (26.7%) was the most common clinical manifestation, followed by dysuria (24.0%) and liver cysts (23.3%). Hematuria was also a common finding, with asymptomatic microscopic hematuria observed in 14.7% of patients and gross hematuria in 9.3%. Among the 150 patients with hereditary kidney diseases, In this study Among the 150 patients with hereditary kidney diseases, acute pyelonephritis was the most common clinical complication (8.0%), followed by cyst infections and salt-losing nephropathy (5.3% each). Acute kidney injury (4.7%) and cyst hemorrhage (4.0%) were also observed. More than half of the patients (55%) had early-stage chronic kidney disease (CKD stages I–II), whereas 45% had advanced CKD (stages III–V). Diabetes was the most common comorbidity (13.3%), followed by chronic pyelonephritis (7%) and Bronchial asthma (3%). Renal stone (3.0%) and Liver dys function (2%) were less frequently observed. Escherichia coli was the predominant pathogen for Urinary Tract Infection, followed by Pseudomonas, Klebsiella, Proteus, Enterobacter, Acinetobacter, and Candida species. Conclusion: This study highlights the diverse clinical spectrum of hereditary kidney diseases, particularly Autosomal Dominant Polycystic Kidney Disease and Alport syndrome. Early recognition, regular assessment of renal function, family screening, and multidisciplinary management are essential for delaying disease progresson and improving patient outcomes.

Journal of Paediatric Surgeons of Bangladesh (2026) Vol. 17 (2): 93-99