Association of osteopetrosis and vitamin D-resistant rickets. 1977

G Zamboni, and M Cecchettin, and P Marradi, and M Foradori, and G Zoppi

The following report concerns a case of malignant osteopetrosis associated with hypocalcemic rickets unresponsive to vitamin D. Parathyroid hormone (PTH) and Calcitonin (CT) secretions were studied in basal conditions and under calcium gluconate infusion, before and after high doses of vitamin D. Basal values (PTH: 690 pg Eq/ml; CT: 560 pg/ml) were found to be much higher than in five control subjects of the same age group, even after vitamin D therapy (PTH: 990 pg Eq/ml; CT:450 pg/ml). Like rickets, PTH and CT secretions do not seem, therefore, to be notably influenced by vitamin D therapy.

UI MeSH Term Description Entries
D007015 Hypophosphatemia, Familial An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME. Diabetes, Phosphate,Familial Hypophosphatemia,Hyperphosphaturia,Phosphate Diabetes,Phosphaturia,Familial Hypophosphatemias,Hypophosphatemias, Familial
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D010022 Osteopetrosis Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY). Albers-Schoenberg Disease,Marble Bone Disease,Osteosclerosis Fragilis,Albers-Schonberg Disease,Albers-Schonberg Disease, Autosomal Dominant,Albers-Schönberg Disease,Autosomal Dominant Osteopetrosis Type 2,Congenital Osteopetrosis,Marble Bones, Autosomal Dominant,Osteopetrosis Autosomal Dominant Type 2,Osteopetrosis, Autosomal Dominant 2,Osteopetrosis, Autosomal Dominant, Type II,Osteosclerosis Fragilis Generalisata,Albers Schoenberg Disease,Albers Schonberg Disease,Albers Schonberg Disease, Autosomal Dominant,Albers Schönberg Disease,Disease, Albers-Schoenberg,Disease, Albers-Schonberg,Disease, Albers-Schönberg,Disease, Marble Bone,Osteopetroses,Osteosclerosis Fragilis Generalisatas
D010281 Parathyroid Hormone A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates. Natpara,PTH (1-84),PTH(1-34),Parathormone,Parathyrin,Parathyroid Hormone (1-34),Parathyroid Hormone (1-84),Parathyroid Hormone Peptide (1-34),Hormone, Parathyroid
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002116 Calcitonin A peptide hormone that lowers calcium concentration in the blood. In humans, it is released by thyroid cells and acts to decrease the formation and absorptive activity of osteoclasts. Its role in regulating plasma calcium is much greater in children and in certain diseases than in normal adults. Thyrocalcitonin,Calcitonin(1-32),Calcitrin,Ciba 47175-BA,Eel Calcitonin,Calcitonin, Eel,Ciba 47175 BA,Ciba 47175BA
D002125 Calcium Gluconate The calcium salt of gluconic acid. The compound has a variety of uses, including its use as a calcium replenisher in hypocalcemic states. CBG,Calciofon,Calcipot,Calcium Braun,Calcivitol,Calglucon,Ebucin,Flopak Plain,Glucal,Glucobiogen,Gluconate de Calcium Lavoisier,Gluconato Calc Fresenius,Gluconate, Calcium
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014807 Vitamin D A vitamin that includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE.

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