Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cadmium is an inessential trace metal which accumulates in human tissues from contamination of food, water or air. The kidney is the critical organ following long-term, low-level absorption either by inhalation or ingestion; accumulation occurring in tubular epithelium in the form of a cadmium-metallothionein complex, giving rise to tubular dysfunction. In a group of 12 cadmium workers some of whom were followed for up to 16 years, tubular proteinuria, renal glycosuria, aminoaciduria, hypercalciuria and defects of concentration and acidification have been observed. Two men became recurrent renal stone formers and 1 man, who had nephrocalcinosis when first seen, later developed vitamin D-resistant osteomalacia. Renal tubular dysfunction following cadmium exposure may continue symptom-free for long intervals, but in a proportion of cases serious clinical effects may eventually develop.
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PMID:Cadmium nephropathy. 22 11

X-linked recessive nephrolithiasis (XRN) is a rare hereditary form of progressive renal failure characterized by (1) proximal tubular dysfunction and low molecular weight proteinuria; (2) hypercalciuria with nephrocalcinosis and nephrolithiasis. Because the clinical features are non-specific and variable, affected families in different parts of the world were initially thought to have several distinct syndromes. However, positional cloning of the relevant gene (CLCN5) demonstrated that these families have, in common, mutations affecting a chloride channel expressed throughout the renal tubule. To expand the description of early clinical and pathological manifestations of XRN, we describe three patients diagnosed in the 1st decade of life. Renal tubular dysfunction may be evident even in the neonatal period, hypophosphatemic rickets may develop in the first years of life, and nephrocalcinosis (but not nephrolithiasis) with glomerulosclerosis are consistent features in childhood. One of our patients is indistinguishable from the others on clinical grounds, yet no mutations of the coding regions of the CLCN5 gene were found, raising the possibility of genetic heterogeneity in the XRN syndrome.
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PMID:Clinical features of X-linked nephrolithiasis in childhood. 981 83

Acute lymphoblastic leukemia (ALL) in children can rarely present with severe lactic acidosis in the absence of a high white blood cell count or other complications. Renal tubular dysfunction with hypercalciuria and hypocalcemia in the absence of pre-existing renal disease or concurrent medications has not been described at presentation in childhood ALL. The authors describe a 7-year-old boy with ALL presenting with severe lactic acidosis and renal tubular dysfunction, both of which were refractory to conventional management and resolved rapidly with appropriate chemotherapy.
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PMID:Acute lymphoblastic leukemia presenting with lactic acidosis and renal tubular dysfunction. 1279 29

Primary hyperparathyroidism manifests biochemically as a disturbance in serum calcium homeostasis. The kidney appears to be the central organ that sets the serum calcium level. Hyperchloraemia, defective urinary acidification and renal tubular acidosis have been reported to be associated with primary hyperparathyroidism. Distal renal tubular acidosis due to primary hyperparathyroidism is rarely reported. Renal tubular dysfunction due to significant hypercalciuria appears to be one of the proposed mechanisms. This case report will highlight a case of primary hyperparathyroidism in a 26-year old Filipino man due to a solitary functioning parathyroid adenoma presenting with recurrent nephrolithiasis leading to distal renal tubular acidosis manifesting with hypokalaemia and hypomagnesaemia. The patient underwent a minimally invasive selective parathyroidectomy that resulted in full reversal of hypercalcaemia and hyperparathyroidism together with the features of distal renal tubular acidosis. He is currently on frequent follow-up for monitoring of electrolyte abnormalities and gradual resolution of nephrocalcinosis.
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PMID:Distal renal tubular acidosis in primary hyperparathyroidism. 2563 59