Wilson disease: early screening for better living

Autosomal recessive diseases are more common among consanguineous marriages noted particularly in southern parts of India. There is a gradual increase in the genome wide homogenecity with the increasing levels of consanguinity. Here we are reporting a case series of such an autosomal recessive condition, namely Wilson Disease (WD), where three children were affected with the disease, who were born out of consanguineous marriages. The first case presented with neuropsychiatric manifestations, the second case and third cases were diagnosed through screening of family members leading to earlier identification of the disease. In these cases consanguinity has been emphasised as the major predisposing factor leading to their manifestations. This case series highlights the importance of screening the other family members of the index case. Conditions such as Wilson disease have an excellent prognosis if pharmacotherapy is initiated appropriately.

Clinical Spectrum of Congenital Anomalies of Kidney and Urinary Tract in Children

Objective: To evaluate the clinical spectrum and patterns of clinical presentation incongenital anomalies of kidney and urinary tract. Methods: We enrolled 307 consecutivelypresenting children with congenital anomalies of kidney and urinary tract at the pediatricnephrology clinic. Patients were evaluated clinically, with serum biochemistry, appropriateimaging and radionuclide scans. Results: The most common anomaly was primaryvesicoureteric reflux (VUR) (87, 27.3%), followed by pelviureteral junction obstruction(PUJO) (62,20.1%), multicystic dysplastic kidney (51 16.6%), non-obstructivehydronephrosis (32, 10.4%) and posterior urethral valves (PUV) (23, 7.4%). 247 (80.4%)anomalies had been identified during the antenatal period. Another 33 (10.7%) werediagnosed during evaluation of urinary tract infection, and 21 (6.8%) during evaluation forhypertension at presentation. Obstructive anomalies presented earlier than non-obstructive(7 (3, 22.5) vs 10 (4, 24) mo: (P=0.01)). The median (IQR) ages of presentation for childrenwith PUV (n=23), VUR (n=87) and PUJO (n=62) were 4 (2, 14) mo, 10 (5, 27) mo, and 7 (3,22.5) mo, respectively. Nine (2.9%) children had extrarenal manifestations. Conclusions:The median age at clinical presentation for various subgroups of anomalies indicatesdelayed referral. We emphasize the need for prompt referral in order to initiate appropriatetherapeutic strategies in children with congenital anomalies of kidney and urinary tract