Familial hypophosphatemic rickets: report of a case
نویسندگان
چکیده
منابع مشابه
Familial Hypophosphatemic Rickets - A Case Report and Review of Literature
Introduction Familial hypophosphatemic or X-linked hypophosphatemic (XLH) rickets is the most common form of non-nutritional rickets1. The prevalence of XLH rickets yet remain unknown in Bangladesh. It is an Xlinked dominant disorder characterized by renal phosphate wasting with consequent defect of bone mineralization1. Some form of the disease are observed to be transmitted which followed an ...
متن کاملType 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report
Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...
متن کاملDental characteristics of hypophosphatemic rickets. Case report
Hypophosphatemic rickets (HR), also known as refractory, vitamin D resistant rickets, is a hereditary disease linked to the X chromosome. It is characterized by the metabolic disturbance of calcium and phosphate, which causes defective calcifi cation of mineralized structures such as bones and teeth.1,2 It is the most common type of rickets found in developed countries. Its incidence can be cou...
متن کاملX-linked hypophosphatemic rickets: case report.
INTRODUCTION X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and ...
متن کاملfamilial hypophosphatemic rickets and hypopituitarism: a case report and literature review
conclusions this case highlights the fact that fhr and ghd may coexist, with possible masking effect of one on the other, thereby misleading the approach, posing large impacts on therapy, which has historically been a difficult challenge in fhr patients. introduction coincided familial hypophosphatemic rickets (fhr) and hypopituitarism is a rare condition. growth hormone deficiency (ghd) evalua...
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ژورنال
عنوان ژورنال: Paediatrica Indonesiana
سال: 2016
ISSN: 2338-476X,0030-9311
DOI: 10.14238/pi43.2.2003.70-2