Hypophosphatemic Rickets Accompanying Congenital Microvillous Atrophy
نویسندگان
چکیده
منابع مشابه
Congenital microvillous atrophy: specific diagnostic features.
Proximal small intestinal and colonoscopic mucosal biopsies from two children with the intractable diarrhea of infancy syndrome were examined by electron microscopy. Microvillous involutions were found in the small and large bowel of both patients. We suggest that this is a specific diagnostic finding for congenital microvillous atrophy, a distinct disorder within the intractable diarrhoea synd...
متن کاملMicrovillous inclusion disease (microvillous atrophy)
Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or in the first two months (late-onset form) of life. MVID is a very rare disorde...
متن کاملHereditary hypophosphatemic rickets
Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...
متن کاملHypophosphatemic rickets and osteomalacia.
The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 1998
ISSN: 0884-0431
DOI: 10.1359/jbmr.1998.13.12.1946