calcitriol and Syndrome

Recent studies have shown a relationship between vitamin D status and growth hormone (GH) and insulin-like growth factor 1 (IGF1). The objective of this study was to assess vitamin D status in children with GH deficiency due to pituitary stalk interruption syndrome (PSIS) and to investigate the relationship between 25-hydroxyvitamin D (25OHD) and 1,25-dihydroxyvitamin D (1,25 (OH). A retrospective single-center study of 25OHD and 1,25(OH)

Topics: Adolescent; Biomarkers; Child; Child, Preschool; Female; Human Growth Hormone; Humans; Hypopituitarism; Infant; Male; Retrospective Studies; Syndrome; Vitamin D; Vitamin D Deficiency

Topics: Adenocarcinoma; Aged, 80 and over; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Hypophosphatemia; Male; Osteomalacia; Parathyroid Hormone; Prostatic Neoplasms; Syndrome; Vitamin D

Over 23 months, zinc toxicosis was diagnosed in 35 baboons aged 5-12 months in one galvanized metal and concrete cage complex with conditions that led to excessive exposure to environmental zinc. Clinical signs included reduced pigmentation of hair, skin, and mucous membranes (whiteness), alopecia, dehydration, emaciation, cachexia, dermatitis, diarrhea and, in six cases, severe gangrenous dermatitis of extremities. The syndrome was characterized by pancytopenia, elevated zinc and low copper serum concentrations, low vitamin D and bone-specific alkaline phosphatase levels, and atypical myelomonocytic proliferation of bone marrow. This syndrome emphasizes the importance of proper husbandry and cage design and indicates the potential of infant baboons as a model to study the effects of excessive zinc on development. This is the first report describing the epidemiologic and clinical presentation of zinc toxicosis in infant baboons in captivity.

Topics: Alopecia; Analysis of Variance; Anemia; Animals; Bone and Bones; Copper; Dermatitis; Diarrhea; DNA-Binding Proteins; Environmental Exposure; Flow Cytometry; Housing, Animal; Karyotyping; Light; Monkey Diseases; Papio; PAX5 Transcription Factor; Pigmentation; Radiography; Radioimmunoassay; Syndrome; Transcription Factors; Vitamin D; Zinc

We describe a familial syndrome in two brothers who were investigated after the casual discovery of tubular proteinuria in their 1st month of life. During a follow-up of 20 and 11 years, respectively, the two children grew well and were asymptomatic, but developed the same biochemical abnormalities, i.e., tubular proteinuria and hyperphosphaturia, progressive decrease in serum phosphorus below the normal values for age, and an increase in serum 1,25-dihydroxyvitamin D levels over normal values. Moreover, hyperabsorptive hypercalciuria and systemic osteopenia developed and progressively worsened. In both children, at a different age, medullary nephrocalcinosis appeared. The oldest boy suffered a progressive decrease in urinary concentration ability and in glomerular filtration rate. Oral phosphate supplementation led to reversal of all biochemical abnormalities, with the exception of decreased phosphate tubular reabsorption and tubular proteinuria. With long-term phosphate supplementation, a normal bone mass was reached, while progression of nephrocalcinosis was arrested and impairment of renal function was slowed down. In a family study (siblings and parents), the only detectable abnormality was microglobinuria in the mother, thus suggesting a X-linked inheritance of this disorder. In the two probands a mutation within the renal chloride channel gene (CLCN5) was discovered.

Topics: Child; Child, Preschool; Chloride Channels; Female; Genetic Linkage; Glomerular Filtration Rate; Humans; Infant, Newborn; Kidney Concentrating Ability; Kidney Diseases; Male; Mutation; Syndrome; Vitamin D; X Chromosome