Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235394 (wasting)
 8,040 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report changes in renal function and growth rate in children with reduced renal function who were kept on a low normal phosphorus formula until 18 months of age. The relationship between serum creatinine values and derived creatinine clearance and residual renal function is reviewed regarding the risk of progressive loss of function. Expressing growth as growth velocity standard deviation scores over 6-month intervals gave a more accurate description of growth performance than did change in height standard deviation scores. A relationship between residual clearance and growth velocity was inferred. However, the growth of children with a less severe reduction in function was affected intermittently by intercurrent infections and inadequately treated acidosis and salt wasting. Children with a more severe reduction in function, despite maintenance on the low-phosphorus formula, had elevated serum parathormone levels. We conclude that following growth (as serial growth velocity standard deviation scores) in relation to other variables gives more insight into factors affecting growth in these children; the level of residual function affects growth potential but other complicating factors also have an effect.
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PMID:Growth rate in infants with impaired renal function. 341 9

A 41-year-old woman was operated on for severe hyperparathyroid syndrome. At surgery a parathyroid tumor with the histopathologic pattern of carcinoma was found. After surgery serum calcium settled within normal limits (10.5 mg/dl, N.V. 8.5-10.8), whereas parathormone and calcitonin reached progressively high levels, respectively 400 ng/dl (N.V. up to 250) and 500 pg/ml (N.V. up to 100 ng/ml). Serum ultrafiltration analysis for parathormone and calcitonin showed many peaks of immunoreactivity with high molecular weight of both hormones. One year after surgery, metastases developed in the lymph nodes of the neck and the mediastinal, pleural and pancreatic regions. After death for tumor wasting, immunohistochemical study of the tumoral tissue with the peroxidase-antiperoxidase technique showed a relatively high density of calcitonin-containing cells. The findings in this case suggest that: several cells in this parathyroid cancer could secrete both parathormone and calcitonin; the hormonal secretion was impaired as suggested by the high molecular weight of both hormones found at gel-filtration analysis; the macromolecular profile of parathormone could explain the apparent function of the parathyroid cancer.
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PMID:Apparently nonfunctioning metastases of parathyroid carcinoma. 357 16

Two cases of primary hyperparathyroidism due to single parathyroid adenomas presented with the additional feature of hyperchloremic acidosis. The defect in urinary acidification responsible was not of the distal or gradient-limited type since both patients could lower urine pH adequately. However, there was a defect of bicarbonate reabsorption, an abnormality referred to as the proximal or rate-limited type of renal tubular acidosis. It is suggested that this defect represents an exaggeration of the physiological effect of parathormone on bicarbonate reabsorption and may be responsible for the frequent finding of hyperchloremia in association with primary hyperparathyroidism as well as for the urinary bicarbonate-wasting associated with a variety of causes of secondary hyperparathyroidism.
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PMID:Primary hyperparathyroidism and proximal renal tubular acidosis: report of two cases. 501 29

Alterations of calcium and bone metabolisms have been observed in numerous studies of small groups of male HIV-infected patients. However, our knowledge regarding the manifestation of AIDS-associated hypoparathyroidism in female subjects is limited. In order to investigate the influence of heroin on the calciotropic hormones we performed a cross-sectional study on 45 female patients with proven HIV infection. The following criteria were used for exclusion from the study: age less than 20/ more than 50 years; confinement to bed; wasting symptoms; treatment with agents containing ketoconazole, renal or hepatic insufficiency; clinical or echographic signs of liver cirrhosis; endocrine diseases, or treatment with drugs known to influence calcium metabolism. A reduced parathormone (PTH) level was found among the female HIV-infected patients. Additional long-term use of heroin resulted in a significant increase of PTH compared to sex- and age matched controls and a second group of non-HIV-afflicted heroin dependent females. Significantly lowered serum magnesium concentrations were found in all three groups. Both serum calcium and urinary excretion of calcium were elevated in the group of HIV-infected heroin addicts and were independent from low vitamin D3 levels (1,25-dihydroxycholecalciferol) and alterations of protein metabolism. Therefore, it is concluded that the changes of PTH secretion are mainly due to mechanisms both of the impaired immune defense of HIV-infected females and the additional effect of opiates.
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PMID:Elevated serum-calcium and parathormone-levels in HIV afflicted female heroin addicts. 926 87

Magnesium deficiency is a common clinical problem. Dietary malabsorption and renal wasting are the commonest causes. Hypomagnesemia induces a state of functional hypoparathyroidism due to decreased secretion of parathormone (PTH) as well as resistance to its action. Contrary to typical autoimmune hypoparathyroidism, it is associated with decreased levels of serum phosphate. We report a patient who presented with hypocalcemic tetany associated with hypomagnesaemia due to renal wasting. Subsequently, he improved with magnesium supplementation of therapy.
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PMID:Hypomagnesaemia masquerading as hypoparathyroidism. 1690 43

A prospective study was carried out in the Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh, from October, 2001 to October, 2003 to find out the impact of different etiology of chronic renal failure on growth in children. Fifty children of both sexes under 15 years of age with clinical and biochemical evidence of chronic renal failure (CRF) with creatinine clearance (Ccr) of <75 ml/min/1.73m2 were included in the study. On the basis of underlying causes of CRF, the children were divided into congenital (n=30) and acquired (n=20) groups. All patients' height, weight, radiographs of different bones was obtained to evaluate the presence of renal osteodystrophy (ROD) and for assessment of bone age. Serum intact parathormone (iPTH) level was also assayed in all patients. These parameters were evaluated in two groups. CRF children due to congenital anomalies had stunting and wasting in 23 (76.7%) and 20 (66.7%) cases respectively and the difference between two groups was highly significant (P<0.001). Alkaline phosphatase (467.70+/-218.55 U/L) and iPTH (91.43+/-33.42 pg/ml) were also significantly higher in the congenital group (P<0.001 and P<0.05 respectively). Radiographic features of ROD were present in 15 (50%) cases in congenital group in comparison to 4 (20%) in acquired group and the growth zone lesion was the commonest type of ROD in congenital group (66.7%). CRF should be diagnosed as early as possible to maintain growth potential.
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PMID:Impact of etiology of chronic renal failure on growth in children. 1791 29

Hyp mice possess a mutation that inactivates the phosphate-regulating gene, which is homologous to the endopeptidases of the X-chromosome (PHEX). The mutation is associated with severe hypophosphatemia due to excessive urinary phosphate wasting. Such urinary phosphate wasting in Hyp mice is associated with an increased serum accumulation of fibroblast growth factor (FGF) 23. We wanted to determine the biological significance of increased serum FGF23 levels and concomitant hypophosphatemia in Hyp mice and to evaluate whether FGF23 activity could be modified by manipulating klotho (a cofactor of FGF23 signaling). We generated Hyp and klotho double-mutant mice (Hyp/klotho(-/-)). Severe hypophosphatemia of Hyp mice was reversed to hyperphosphatemia in Hyp/klotho(-/-) double mutants, despite the fact that the double mutants showed significantly increased serum levels of FGF23. Hyperphosphatemia in Hyp/klotho(-/-) mice was associated with increased renal expression of sodium/phosphate cotransporter 2a (NaPi2a) protein. Exogenous injection of bioactive parathyroid hormone 1-34 down-regulated renal expression of NaPi2a and consequently reduced serum levels of phosphate in Hyp/klotho(-/-) mice. Moreover, in contrast to the Hyp mice, the Hyp/klotho(-/-) mice showed significantly higher serum levels of 1,25-dihydroxyvitamin D and developed extensive calcification in soft tissues and vascular walls. Furthermore, compared with the Hyp mice, Hyp/klotho(-/-) mice were smaller in size, showed features of generalized tissue atrophy, and generally died by 15-20 wk of age. Our in vivo studies provide genetic evidence for a pathological role of increased FGF23 activities in regulating abnormal phosphate homeostasis in Hyp mice. Moreover, these results suggest that even when serum levels of FGF23 are significantly high, in the absence of klotho, FGF23 is unable to regulate systemic phosphate homeostasis. Our in vivo observations have significant clinical implications in diseases associated with increased FGF23 activity and suggest that the functions of FGF23 can be therapeutically modulated by manipulating the effects of klotho.
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PMID:Inactivation of klotho function induces hyperphosphatemia even in presence of high serum fibroblast growth factor 23 levels in a genetically engineered hypophosphatemic (Hyp) mouse model. 1958 4

Hyperparathyroidism is a rare finding in children. It is a typical sign of vitamin D-deficiency caused by different reasons. It may also be due to calcium wasting syndromes, and it can rarely be induced by adenomas of the parathyroid glands and in parathormone receptor mutations (pseudohyperparathyroidism). A 12-year old Gambian girl living in Hamburg, Germany, was developing abdominal and joint pain. Serum analysis revealed low serum-calcium, significantly elevated parathormone and decreased vitamin D. Immigrant rickets was assumed. Because of abdominal pain and iron deficiency, lambliasis was ruled out. Celiac disease was demonstrated by gliadin and endomysium antibodies as well as by intestinal mucosa biopsy. Despite of a gluten-free diet the joint pains persisted. They were declared by rheumatologists to be caused by a chronic juvenile arthritis (sister disease of celiac disease). However, there were no positive inflammation signals and no clear elevated rheuma-immunology. Follow up: Gluten-free diet and additional treatment with calcium and active vitamin D did not stop increasing parathormone levels, did not stop abdominal and joint pain, and did not stop increment of positive celiac disease antibodies. Assuming compliance problems the patient was then treated with vitamin D injections, which caused decreasing parathormone levels and vanishing joint pain. Celiac disease can cause intestinal rickets with elevated parathomone levels mimicking chronic juvenile arthritis, if gluten-free diet is not strictly performed by compliance problems.
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PMID:Hyperparathyroidism due to auto-immunological malabsorption in an African girl. 2161 78

This review examines calcium and phosphate transport in the kidney through the lens of the rare X-linked genetic disorder Dent disease. Dent disease type 1 (DD1) is caused by mutations in the CLCN5 gene encoding ClC-5, a Cl- /H+ antiporter localized to early endosomes of the proximal tubule (PT). Phenotypic features commonly include low molecular weight proteinuria (LMWP), hypercalciuria, focal global sclerosis and chronic kidney disease; calcium nephrolithiasis, nephrocalcinosis and hypophosphatemic rickets are less commonly observed. Although it is not surprising that abnormal endosomal function and recycling in the PT could result in LMWP, it is less clear how ClC-5 dysfunction disturbs calcium and phosphate metabolism. It is known that the majority of calcium and phosphate transport occurs in PT cells, and PT endocytosis is essential for calcium and phosphorus reabsorption in this nephron segment. Evidence from ClC-5 KO models suggests that ClC-5 mediates parathormone endocytosis from tubular fluid. In addition, ClC-5 dysfunction alters expression of the sodium/proton exchanger NHE3 on the PT apical surface thus altering transcellular sodium movement and hence paracellular calcium reabsorption. A potential role for NHE3 dysfunction in the DD1 phenotype has never been investigated, either in DD models or in patients with DD1, even though patients with DD1 exhibit renal sodium and potassium wasting, especially when exposed to even a low dose of thiazide diuretic. Thus, insights from the rare disease DD1 may inform possible underlying mechanisms for the phenotype of hypercalciuria and idiopathic calcium stones.
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PMID:Dent disease: A window into calcium and phosphate transport. 3147 5