TY - JOUR
T1 - Idiopathic Hypercalciuria and Hereditary Hypophosphatemic Rickets
AU - Tieder, Martin
AU - Modai, David
AU - Shaked, Uri
AU - Samuel, Ruth
AU - Arie, Raphael
AU - Halabe, Aharon
AU - Maor, Joseph
AU - Weissgarten, Joshua
AU - Averbukh, Zhan
AU - Cohen, Natan
AU - Edelstein, Samuel
AU - Liberman, Uri
PY - 1987/1/15
Y1 - 1987/1/15
N2 - Among 59 closely related members of one Bedouin tribe, we identified 9 who had the characteristic features of hereditary hypophosphatemic rickets with hypercalciuria (HHRH). We found “idiopathic” hypercalciuria in 21 of the 50 asymptomatic members. The biochemical abnormalities observed in these 21 subjects were qualitatively similar to those in the 9 with HHRH, but were quantitatively milder. The urinary calcium concentration was 0.43±0.14 mg per milligram of creatinine (mean ±SD) in the patients with HHRH, 0.34±0.07 in the subjects with idiopathic hypercalciuria, and 0.14±0.05 in normal subjects from the same tribe. Tubular reabsorption of phosphorus and serum phosphorus concentrations were 3.0 and 4.3 SD units below the age-related mean, respectively, in HHRH, and 1.1 SD units below the normal mean for both variables in idiopathic hypercalciuria. Mean serum levels of 1,25-dihydroxyvitamin D (1,25-(OH)2D) were 303 pg per milliliter in HHRH and 145 pg per milliliter in idiopathic hypercalciuria (upper normal limit, 110). We conclude that the subjects with hypercalciuria and the patients with HHRH shared a hereditary renal phosphate leak that led to hypophosphatemia, elevated serum concentrations of 1,25-(OH)2D, increased intestinal calcium absorption, and hypercalciuria. The magnitude of the hypophosphatemia, which regulates 1,25-(OH)2D levels, appears to determine which subjects will have hypercalciuria alone and which will also have bone disease. (N Engl J Med 1987; 316:125–9.), A NEW syndrome, hereditary hypophosphatemic rickets with hypercalciuria (HHRH), was recently described in closely related members of a Bedouin tribe.1 It is characterized by rachitic skeletal deformities and abnormalities of phosphate and calcium metabolism. We have studied 50 additional asymptomatic, unselected members of the same tribe. Unexpectedly, about 40 percent of them were found to have “idiopathic” hypercalciuria, as well as a pattern of biochemical abnormalities similar to those of their relatives with HHRH. Quantitatively, however, the abnormalities were milder, and the relevant biochemical values were intermediate between those found in the members with HHRH and those in normal members…
AB - Among 59 closely related members of one Bedouin tribe, we identified 9 who had the characteristic features of hereditary hypophosphatemic rickets with hypercalciuria (HHRH). We found “idiopathic” hypercalciuria in 21 of the 50 asymptomatic members. The biochemical abnormalities observed in these 21 subjects were qualitatively similar to those in the 9 with HHRH, but were quantitatively milder. The urinary calcium concentration was 0.43±0.14 mg per milligram of creatinine (mean ±SD) in the patients with HHRH, 0.34±0.07 in the subjects with idiopathic hypercalciuria, and 0.14±0.05 in normal subjects from the same tribe. Tubular reabsorption of phosphorus and serum phosphorus concentrations were 3.0 and 4.3 SD units below the age-related mean, respectively, in HHRH, and 1.1 SD units below the normal mean for both variables in idiopathic hypercalciuria. Mean serum levels of 1,25-dihydroxyvitamin D (1,25-(OH)2D) were 303 pg per milliliter in HHRH and 145 pg per milliliter in idiopathic hypercalciuria (upper normal limit, 110). We conclude that the subjects with hypercalciuria and the patients with HHRH shared a hereditary renal phosphate leak that led to hypophosphatemia, elevated serum concentrations of 1,25-(OH)2D, increased intestinal calcium absorption, and hypercalciuria. The magnitude of the hypophosphatemia, which regulates 1,25-(OH)2D levels, appears to determine which subjects will have hypercalciuria alone and which will also have bone disease. (N Engl J Med 1987; 316:125–9.), A NEW syndrome, hereditary hypophosphatemic rickets with hypercalciuria (HHRH), was recently described in closely related members of a Bedouin tribe.1 It is characterized by rachitic skeletal deformities and abnormalities of phosphate and calcium metabolism. We have studied 50 additional asymptomatic, unselected members of the same tribe. Unexpectedly, about 40 percent of them were found to have “idiopathic” hypercalciuria, as well as a pattern of biochemical abnormalities similar to those of their relatives with HHRH. Quantitatively, however, the abnormalities were milder, and the relevant biochemical values were intermediate between those found in the members with HHRH and those in normal members…
UR - http://www.scopus.com/inward/record.url?scp=0023127407&partnerID=8YFLogxK
U2 - 10.1056/NEJM198701153160302
DO - 10.1056/NEJM198701153160302
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AN - SCOPUS:0023127407
SN - 0028-4793
VL - 316
SP - 125
EP - 129
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 3
ER -