An X-linked dominant mutation (gyro, gene symbol Gy) in the laboratory mouse causes hypophosphatemia, rickets/osteomalacia, circling behavior, inner ear abnormalities, and sterility in males and a milder phenotype in females.Gy maps closely (crossover value 0.4-0.8%) to another Xlinked gene (Hyp) that also causes hypophosphatemia in the mouse. Gy and Hyp genes have similar quantitative expression in serum phosphorus values, renal excretion of phosphate, and impairment of Na+/phosphate cotransport by renal brushborder membrane vesicles. These findings indicate that independent translation products of two X-linked genes serve phosphate transport in mouse kidney and thereby control phosphate content of extracellular fluid. The Gy translation product, unlike the Hyp product, is also expressed in the inner ear. These findings have implications for our understanding of the human counterpart known as "X-linked hypophosphatemia."
Twenty-four hour ambulatory BP recording and echocardiography are required for accurate diagnosis of inadequate BP control and early LVH in patients with chronic renal impairment, independent determinants of which are hypertension, male sex, BMI, and anaemia.
Adult polycystic kidney disease has been found in association with pathological dilatation of the seminal vesicles in six patients. These men appeared normal on clinical examination, but had azoospermia or severe oligozoospermia. They were investigated by scrotal exploration with vasography, renal and transrectal ultrasound scans (TRUS), and percutaneous puncture of the seminal vesicles in one case, before and after resection of the ejaculatory ducts. This revealed that the gross dilatation of the seminal vesicles was not caused by obstruction, but appeared to be due to atonicity (megavesicles). These ultrasonic appearances, when described previously, were incorrectly thought to be due to seminal vesicle cysts.
1.A cation-exchange-chromatographic method for the determination of methylguanidine in serum is described.2. In ten normal subjects, the mean serum methylguanidine concentration was 0·055 (SE 0'019) mg/ 100 ml and in ten uraemic patients it was 0·175 (SE 0,038) mg/ 100 ml. This difference is significant (P<0·02).3. Recent claims that methylguanidine is present in uraemic serum in much higher concentrations are shown to be due to artifactual conversion of creatinine when methods involving charcoal chromatography are employed.4. The results of intoxication experiments, in which blood concentrations of methylguanidine similar to those found by charcoal-chromatographic methods have been reproduced, must be interpreted with caution.
1. Tamm—Horsfall (T—H) glycoprotein has been measured by a specific radioimmunoassay method in the urine of patients with chronic renal failure, cadmium nephropathy and Lignac—Fanconi syndrome, and in renal and bladder calculi.
2. Total T—H glycoprotein excretion/24 h was markedly reduced in patients with chronic renal failure compared with normals. A highly significant correlation was observed between T—H excretion rate and creatinine clearance corrected for surface area, in both normals and patients with renal impairment. However, the mean T—H excretion per functioning nephron unit did not differ significantly in patients with renal failure compared with normals.
3. Total T—H excretion/24 h was in the normal range in patients with cadmium nephropathy despite reduced glomerular filtration rates, owing to a highly significant increase in T—H excretion per functioning nephron unit. Similar findings were obtained in a group of children with Lignac—Fanconi syndrome whose T—H excretion per functioning nephron unit was much higher than that of normal children in the same age range. This indicates an increased T—H glycoprotein excretion per functioning nephron unit in both these conditions.
4. T—H glycoprotein content of bladder and renal calculi ranged from 0002 to 5.07 mg/g of calculus. There was no correlation between T—H glycoprotein content and either the total protein content or the qualitative inorganic composition of the stones.
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