Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One group has reported hypocalcemic individuals in families affected with familial benign hypercalcemia (FBH), suggesting either that FBH is merely an extreme of normality or that hypocalcemia is independently inherited in that kindred. To test these hypotheses, we examined the distributions of serum total calcium (Ca) values in 260 normal adults and 171 adult individuals in 21 FBH kindreds. We excluded from analysis the 21 adult probands, leaving 85 apparently affected persons (Ca, greater than 10.1 mg/dL or greater than 2.52 mmol/L) and 65 apparently unaffected individuals (Ca, less than or equal to 10.1 mg/dL or less than or equal to 2.52 mmol/L). Five FBH family members were hypocalcemic (less than 8.9 mg/dL or less than 2.22 mmol/L); of these, 3 had hypoproteinemia or hypoalbuminemia, 1 had surgical hypoparathyroidism, and 1 was pregnant (and thus excluded from further analysis). Histogram analysis suggested a bimodal distribution of Ca in the FBH families, and familial serum Ca levels were significantly elevated (P less than 0.001, rank sum). When only apparently unaffected family members were compared with normal individuals with serum Ca of 10.1 mg/dL or 2.52 mmol/L or less, the distributions were virtually identical. Our results indicate that hypocalcemia in members of families with FBH is of sporadic nongenetic origin. Furthermore, FBH is not an extreme of the normal distribution, but, instead, a clear disturbance with its own distribution about a supranormal mean serum calcium value.
 ...
PMID:Distribution of serum calcium values in patients with familial benign hypercalcemia (hypocalciuric hypercalcemia): evidence for a discrete genetic defect. 366 74

Hypocalcemia was found in 122 (1.6%) of the patients attending a large oncological center. In 10% of the cases, hypocalcemia was caused by hypoparathyroidism and/or uremia, in 12% it was related to a major infection. Osteoblastic metastases were responsible in 4% of the cases and in 74% hypocalcemia accompanied an impairment of the general condition due to the malignancy or its treatment, usually in the terminal stage of the disease. The most common cause of hypocalcemia in this group of patients seemed to be hypoproteinemia. Correction of serum calcium for variations in serum albumin concentration, however, indicated that a small proportion had a decreased ionized calcium value as well, the mechanism of which remained obscure. The hypocalcemia was usually relatively mild, especially after correction for albumin variations. Tetanic symptoms were not seen. Hypocalcemia thus seems to be a fairly common complication of malignant disease, the clinical relevance of which, however, appears to be relatively small in most cases.
 ...
PMID:A hospital survey of hypocalcemia in patients with malignant disease. 377 91

A 76-year-old female patient who had been taking vitamin D2 100,000 U/day for more than 14 years due to hypoparathyroidism following total throidectomy was admitted because of protracted hypercalcemia. On admission, the levels of serum vitamin D2 (99.8 ng/ml) and 25-OHD2 (356 ng/ml) were very high, and 1,25-(OH)2D2 was low (4.0-18.7 pg/ml). Serum D3' 25-OHD3 and 1,25-(OH)2D3 were below the normal range. Despite intensive hydration with saline, intravenous hyperalimentation with phosphate- and calcium-free nutrients, and administration of glucocorticoid and calcitonin, the hypercalcemia persisted, accompanied by hypoproteinemia, edema, pleural effusion and congestive heart failure. The serum D2 and 25-OHD2 concentrations remained high and were accompanied by a gradual increase in 1,25-(OH)2D2 (121 pg/ml), which further increased after the administration of bisphosphonate (pamidronate) to 183 pg/ml. Seventeen months later, serum calcium and 1,25-(OH)2D2 were normalized but serum D2 and 25-OHD2 remained high. The serum 24,25-(OH)2D2/25-OHD2 ratio was relatively constant throughout her clinical course, whereas the low serum 1,25-(OH)2D2/25-OHD2 ratio at admission gradually increased during admission, suggesting that the increase in serum 1,25-(OH)2D2 is due to increased production rather than decreased degradation. The administration of pamidronate further increased serum 1,25-(OH)2D2. These features of the clinical course demonstrate that the 1,25-dihydroxyvitamin D concentration in hypercalcemic patients with protracted vitamin D intoxication may be decreased, normal or increased. Possible factors responsible for a protracted increase in serum 1,25-(OH)2D2 are body weight loss, hypoproteinemia, and phosphate depletion. In addition, some bisphosphonates would certainly promote PTH-independent production of 1,25-(OH)2D2.
 ...
PMID:Progressively increased serum 1,25-dihydroxyvitamin D2 concentration in a hypoparathyroid patient with protracted hypercalcemia due to vitamin D2 intoxication. 852 47

Autoimmune polyglandular syndrome (APS) is a rare disease that is characterized by autoimmune reactions to multiple endocrine and non-endocrine organs, which can be divided into four main types. The principal manifestations of APS-3 are autoimmune thyroid disease and other autoimmune diseases, such as type 1 diabetes, atrophic gastritis, pernicious anemia, vitiligo, alopecia, and myasthenia gravis, but not Addison's disease or hypoparathyroidism. Here we report a case demonstrating the rare coexistence of growth hormone deficiency and hyperthyroidism with sexual dysgenesis, secondary amenorrhea, cardiomegaly, splenomegaly, hypoproteinemia, pleural effusion, seroperitoneum, pericardial effusion, anasarca, osteoporosis, vitamin D deficiency, iron-deficiency anemia, poor blood coagulation, leucocytopenia, peripheral neuropathy, hyperuricemia, ichthyosis, tinea cruris, and onychomycosis.
 ...
PMID:A rare case of coexistence of autoimmune polyglandular syndrome type 3 with growth hormone deficiency and hyperthyroidism in a patient with pseudo-Turner's syndrome. 3304 97