Congenital anomalies of kidney and urinary tract in siblings: An uncommon condition
A 10-year-old boy presented with anemia. He gave a history of straining during micturition for the last few years. He was hypertensive (BP 130/90 mmHg). General physical and systemic examination was normal. Investigations revealed hemoglobin of 7.5 gm/dL with normocytic, normochromic anemia. His blood urea and serum creatinine levels were 78 mg/dL and 2.3 mg/dL, respectively, and venous blood gas revealed acidosis. An ultrasound of the abdomen revealed right kidney of 14.7 × 8.8 cm and left kidney of 13.4 × 6.8 cm in size, with gross hydroureteronephrosis and significant post-void residue of urine in the bladder. An MCUG showed irregular bladder outline with multiple sacculations and small diverticuli and dilated posterior urethra. The DTPA scan showed bilateral enlarged hydronephrotic kidneys with near-normal function. The child underwent valve fulgration. At present, this child is 16 years of age and has CKD stage 3 (eGFR 32 mL/min/1.73 m²). He is hypertensive. He is on conservative management (supplements and antihypertensive) for his renal failure.\nA younger brother of this patient was evaluated for short stature and generalized weakness at 6 years of age. An ultrasound showed right kidney of 3 × 1.6 and left kidney of 8 × 4.5 cm, with dilated upper ureters. An MCUG showed irregular large bladder with narrowed posterior urethra. The DTPA was suggestive of nonfunctioning right kidney and mild to moderate impairment of left kidney with non-obstructive hydronephrosis. The child underwent cystoscopic fulgration of the valves. Since then, the child is on regular follow-up and is 11 years old now. He has CKD stage 4 (eGFR 26 mL/min/1.73 m²) and is on conservative management. The ultrasound scan of the abdomen of other siblings (one brother and sister) and both parents, who have a non-consanguineous marriage are normal.