نتایج جستجو برای: familial hypophosphatemic rickets

تعداد نتایج: 58833  

Journal: :European journal of endocrinology 2009
Signe Sparre Beck-Nielsen Bendt Brock-Jacobsen Jeppe Gram Kim Brixen Tina Kold Jensen

OBJECTIVE To estimate the incidence of nutritional rickets and the incidence and prevalence of hereditary rickets. DESIGN Population-based retrospective cohort study based on a review of medical records. METHODS Patients aged 0-14.9 years referred to or discharged from hospitals in southern Denmark from 1985 to 2005 with a diagnosis of rickets were identified by register search, and their m...

2014
Sang-Heon Song Hanna Lee Ji-Min Jeong Woo-In Cho Sung Eun Kim Hae-Ryong Song

The aim of this study was to find out the ideal cut-off level of phosphate for safe healing when deformity correction and concomitant lengthening are indicated in the two different skeletal maturity groups of patients with rickets. Thirty-nine hypophosphatemic rickets patients were selected for the study and were divided into two groups: 27 skeletally immature (group IM) and 12 skeletally matur...

Journal: :The Journal of clinical investigation 1997
M J Econs P T McEnery F Lennon M C Speer

Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis of which is unknown. We performed a genome-wide linkage study in a large kindred to determine the chromosome location of the ADHR gene. Two-point LOD scores indicate that the gene is linked to the markers D12S314 [Z(theta) = 3.15 at theta = 0.0], vWf [Z(theta) = 5.32...

Journal: :The Proceedings of the Nutrition Society 1997
M G Dunnigan J B Henderson

Privational infantile rickets is now rare in the UK. Privational vitamin D deficiency remains common in the British Asian population, leading to neonatal, infantile and late rickets in childhood and osteomalacia (adult rickets) in Asian women (Dunnigan et al. 1962; Ford et al. 1972a, 1973; Holmes et al. 1973; Stamp et al. 1980). The prevalence of these manifestations of severe vitamin D deficie...

Journal: :Archives of disease in childhood 2000
P S Rowe

Bone mineral loss disorders are major, worldwide health concerns, and can be familial, idiopathic, oncogenic, dietary, or hormonal. The mechanisms controlling bone integrity are complex. Extensive research has been directed towards the characterisation of the key factors involved in bone mineral regulation and two specific bone diseases, X-linked hypophosphataemic rickets (HYP) and oncogenic hy...

2017
Sezer Acar Korcan Demir Yufei Shi

Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group ...

2009
Matthew D Neal Berthony Deslouches Jennifer Ogilvie

INTRODUCTION To describe the use of combined preoperative imaging and intraoperative parathyroid hormone as a novel approach in the surgical management of a patient with tertiary hyperparathyroidism associated with X-linked hypophosphatemic rickets. CASE PRESENTATION We present the first documented description of combined preoperative imaging and intraoperative parathyroid hormone as well as ...

2010
Melissa Almeida Souza Luiz Alberto Valente Soares Junior Marcela Alves dos Santos Maria Helena Vaisbich

INTRODUCTION Hypophosphatemic rickets represents a group of heritable renal disorders of phosphate characterized by hypophosphatemia, normal or low serum 1,25 (OH)2 vitamin D and calcium levels. Hypophosphatemia is associated to interglobular dentine and an enlarged pulp chambers. AIM Our goal was to verify the dental abnormalities and the oral health condition in these patients. MATERIAL A...

Journal: :Pediatric dentistry 1995
W K Seow H L Needleman I A Holm

Familial or X-linked hypophosphatemic rickets (XLHR) is the most common type of rickets in developed countries today. While the dental manifestations of rickets are well reported, there is little information regarding its relationship to dental development and other dental anomalies. This investigation studied the rate of dental development and associated dental anomalies in 19 XLHR subjects co...

Journal: :The Journal of Clinical Endocrinology & Metabolism 2002

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