background wilson’s disease (wd) is a rare autosomal-recessive disorder characterized by a mutation in the atp7b gene, located on chromosome 13, which encodes a protein involved in the metabolism of copper. case presentation we described the case of an indian male with a history of polydipsia and polyuria, related to hypercalciuria and consequent nephrocalcinosis. the symptoms began at the age ...

Unravelling chronic hypokalaemia can be a clinical challenge in some patients. History and physical examination can be misleading or inaccurate. Diagnostic steps usually involve assessing urinary potassium excretion, transtubular potassium gradient (TTKG) and concomitant acid–base disturbances. In those patients with low urinary potassium excretion, a gastrointestinal cause for the hypokalaemia...

Physicians should be aware of the manifestations of medullary sponge kidney and nephrocalcinosis in patients with Beckwith–Wiedemann syndrome. In addition to nephrocalcinosis, renal cysts, recurrent pain associated with infundibular stenoses, nephroblastomatosis, and Wilms tumor have also been reported.[3] As shown in our case presentation, patients with medullary sponge kidney usually form cal...

4 patients with nephrocalcinosis were treated with disodium ethane 1-hydroxy-1, 1-diphosphonate (EHDP) for a period of 13 months. No clinical side-effects were observed and growth proceeded normally. Radiographic changes of osteitis fibrosa cystica developed in 1 child and bone biopsy in 2 children showed defective osteoid mineralisation. It is suggested that EHDP prevented further crystal depo...

THE syndrome of hyperchlora-mic acidosis with nephrocalcinosis was first described by Dr. Reginald Lightwood at a meeting of the British Padiatric Association at Newcastle, Co. Down, in May, 1935. He described the finding at post-mortem in six infants of heavy deposits of insoluble calcium salts in the renal tubules. The six cases occurred in a consecutive series of 850 autopsies. This may indi...

An 8-year-old girl presented with history of delayed milestones, severe malnutrition, decubitus ulcers over buttocks and elbows, and severe constipation. She was a product of nonconsanguineous marriage with no significant perinatal history. On examination, she had coarse facial features, bilateral convergent squint, thickened dry skin, delayed dentition and non pitting pedal edema. She had seve...

pregnancy, labour, and delivery. He was initially fed orally on a standard infant formula, but feeding became increasingly difficult and he failed to thrive. At 6 weeks of age, he was admitted to hospital, where he continued to gain weight poorly despite numerous feed changes. Nasogastric feeding was therefore started at 10 weeks of age. Investigations showed intermittent neutropenia (the lowes...

Primary hyperoxaluria type I is a rare autosomal show reflux. Cystoscopy with retrograde urogram showed no evidence of obstruction. A diagnosis of recessive metabolic disorder characterized by absence of liver specific peroxisomal alanine glyoxylate aminoend-stage renal disease (ESRD) of unknown aetiology was made. Live related donor kidney transplant was transferase (AGT ) leading to elevated ...

Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinos...