نتایج جستجو برای: familial hypophosphatemic rickets
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Introduction: Coincided familial hypophosphatemic rickets (FHR) and Hypopituitarism is a rare condition. Growth hormone deficiency (GHD) evaluation has been advocated for refractory FHR cases, considering the possible masking effect of FHR on the former. Moreover, there has been controversial use of growth hormone as an adjunct therapy in FHR. Case Presentation: A 19-month-old girl was presente...
Rickets is not a disease of the past. We described a toddler who developed hypophosphatemic rickets associated with the use of elemental formula. This case highlights the importance of frequent monitoring of mineral metabolism in children receiving elemental formula and considering rickets in the workup of child abuse.
Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site...
There is wide difference of opinion as to the prevalence of rickets amolng the urban child population of Great Britain. This is, in part, attributable to the divergent standards of diagnosis accepted by various clinicians; on the one hand rickets is frequently diagnosedl because the child has sweating of the head or flabby muscles or is backward without any evidence of pathological change in th...
Cases of the above kind are by no means common, and I think the following is for this reason alone worthy of being put on record.
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to stimulate 1,25 dihydroxyvitamin D synthesis which, in turn, results in hypercalciuria. Hereditary hypophosphatemic rickets with hypercalciuria...
Objective: To compare the duration for stabilization of respiratory rate in children having pneumonia with and without rickets. Methods: This case control study was conducted at Department of Paediatrics Dow University of Health Sciences and Civil Hospital Karachi, Pakistan, from January to August 2016. In this study 100 diagnosed cases of pneumonia with age group of >2 months to 60 months were...
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