نتایج جستجو برای: familial hypophosphatemic rickets

تعداد نتایج: 58833  

2017
Behnaz Khazai Rahim Vakili

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...

2017
Kamal Abulebda Samer Abu-Sultaneh Riad Lutfi

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.

2014
Yea Eun Kang Jun Hwa Hong Jimin Kim Kyong Hye Joung Hyun Jin Kim Bon Jeong Ku Koon Soon Kim

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...

Journal: :Archives of disease in childhood 2007
W P Atkinson H Mackay W L Kinnear H F Shaw

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...

2016
Christopher Elliott

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.

2010
Natalia Mejia-Gaviria Helena Gil-Peña Eliecer Coto Teresa M Pérez-Menéndez Fernando Santos

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...

Journal: :Helvetica paediatrica acta 1969
A Fanconi A Prader

2016
Ammarah Jamal Irum Latif Sajid Atif Aleem

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...

Journal: :Arquivos Brasileiros de Endocrinologia & Metabologia 2006

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