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)

Studies were conducted in a patient with idiopathic hypophosphatemic osteomalacia to delineate the roles of parathyroid hormone (PTH), vitamin D and renal tubular function. A 43-year-old woman presented with progressive skeletal pains resulting in severe incapacity. Workup revealed: hypophosphatemia with a low tubular maximal phosphate reabsorption per glomerular filtrate (TmP/GFR) of 1.05 mg/dl, normocalcemia, hypocalciuria, elevated alkaline phosphatase and glycinuria. PTH and urinary cyclic AMP (UcAMP) were normal, while calcitriol was low. Renal tubular acidosis or other transport defects were not present and no tumor was found. Biopsy was diagnostic for osteomalacia, and the patient responded to 1-alpha OHD3 and phosphate therapy. Hyperparathyroidism was ruled out by 1) normocalcemia persisting after 1-alpha OHD3 and calcium loading and 2) normal PTH and UcAMP challenged by phosphate supplements. Combined calcium and 1-alpha OHD3 administration resulted in hypercalciuria, decreased UcAMP and increased, but not corrected, TmP/GFR. These findings suggest that the osteomalacia was due to hypophosphatemia caused by a renal leak. PTH is only contributory to the phosphaturia. Low calcitriol level contributes to the osteomalacia directly and indirectly through impaired mineral absorption and, therefore, is also responsible for the hypocalciuria.
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PMID:Metabolic studies in a patient with idiopathic hypophosphatemic osteomalacia. 334 50

The authors report a series of 130 children suffering from urinary lithiasis (essentially between the age of 4 to 6 years) and particularly in boys (2.5 to 1). There were 108 cases of reno-ureteric lithiasis as against 23 vesico-urethral. In 69 cases, pyelocalyceal lithiasis predominated. Thirty per cent of the children had bilateral lithiasis, and 19% of all cases of lithiasis were staghorn calculi. Presenting symptoms : haematuria, diffuse abdominal pain, anuria (6 cases), complete urinary retention (5 cases). Study of these cases failed to indicate whether obstruction of the upper urinary tract (14%) or infection (27%) was the cause or the effect of the lithiasis. Particularly notable were 8 cases of cystinuria (6%), 1 of glycinuria, 1 of hyperoxaluria and 7 of hypercalciuria. At least in Spain, lithiasis in children would appear to be essentially idiopathic. However, 40% of these cases of lithiasis were secondary to obstruction of the excretory tract and/or urinary infection. All types of entero-uroplasty were lithogenic (6 cases). 32% of the children had a proteus infection. Treatment : 14 children were treated medically as against 125 surgically. 70% are free of any recurrence. 7% have a residual lithiasis. The rarity of recurrences and the quality of the results obtained indicate that complete surgical treatment represents the essential feature of the treatment of urinary lithiasis in children.
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PMID:[Urinary lithiasis in the child (author's transl)]. 720 14