Key words: combined liver/kidney transplantation; reference range of 20–40 mmol/l. Prior to analysis, an nephrocalcinosis; primary hyperoxaluria ultrafiltration of plasma to remove proteins and others molecules was performed. Urine ion chromatography was used for measuring urine oxalate concentration with a reference range of

The increased urinary oxalate excretion which is characteristic of primary hyperoxaluria causes recurrent urinary calculi and nephrocalcinosis, with death at an early age (Hall, Scowen, and Watts, 1960; Hockaday, Clayton, Frederick, and Smith, 1964), and no effective treatment for the disease has been reported. Glyoxylate is the main immediate metabolic precursor of oxalate, and if the enzyme o...

Dent’s disease, an X-linked recessive tubular disorder, is characterized by low molecular weight proteinuria (LMWP) and nephrolithiasis associated with nephrocalcinosis and hypercalciuria. It is due to mutations that inactivate the renal voltage-gated chloride channel ClC-5 [1,2], which is encoded by a gene (CLCN5) located on chromosome Xp11.22. It is possible, however, that causative mutations...

Bilateral uraemic optic neuritis is a rare complication of acute renal failure characterized by subacute visual loss, often in the setting of undiagnosed renal disease [1]. Acute renal failure following oral sodium phosphate solution (OSPS), resulting in acute nephrocalcinosis, is being increasingly recognized [2–6]. We describe a patient presenting with visual loss in acute renal failure thoug...

Case Report A girl aged 44 years was admitted to the Paediatric Unit, Clatterbridge HospitaL Bebington, Cheshire, on February 8, 1954. She had been taken to her family doctor for treatment of a furuncle below the right eye and he had referred her as a case of ceinisn. The child weighed 74 lb. at birth and was born in West Kirby, Wirral. She was breast fed for one month and then the family moved...

Nine of ninety patients with sarcoidosis were found to have significant renal impairment. Epithelioid granulomata were present in five of eight patients who had renal biopsies and glomerular lesions were present in six. There was close correlation between hypercalcaemia, hyperuricaemia, nephrocalcinosis and creatinine clearance. In one patient, renal sarcoidosis complicated membrano-proliferati...

We report vitamin D toxicity in an infant following consecutive administration use of a large dose of vitamin D, causing symptomatic hypercalcemia, which was successfully managed with injectable calcitonin. However, the child developed bilateral medullary nephrocalcinosis which persisted 42 mon after the initial episode.

Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation of the RRM2...

Nephrocalcinosis involves the deposition of microscopic crystals in the tubular lumen or interstitium. While the clinical, biochemical, and genetic aspects of the diseases causing nephrocalcinosis have been elucidated, little is known about the cellular events in this calcification process. We previously reported a phenomenon involving the spontaneous formation of Ca2PO4 nodules in primary papi...