Results 161 to 170 of about 7,235,288 (192)

X-linked Hypophosphatemic Rickets Associated With Respiratory Failure

Clinical Pediatrics, 2008
We report a 5-year-old girl who presented to our emergency room with respiratory arrest and limb deformities and was subsequently diagnosed with X-linked hypophosphatemic rickets. On normalization of the serum phosphorus concentration, her respiratory distress resolved, illustrating that untreated X-linked hypophosphatemic rickets can lead to life ...
Andrea, Balazs, George, Jeha, Sheila K, Gunn, Lefkothea P, Karaviti   +3 more
openaire   +2 more sources

The care of the patient with X-linked hypophosphatemic rickets.

European journal of paediatric dentistry
X-linked hypophosphatemic rickets (XLH) is characterised by severe skeletal deformities and dental abnormalities. The aim of this work is to examine the prevalence of abscesses, the features of pulp chambers, and the biochemical and histological signs of the disease.Pulp chambers size, shape, and morphology were assessed by orthopantomography in XLH ...
Giuca, M. R., Carli, E., Baroncelli, G. I., Ligori, S., Capotosti, I., Zampollo, E.   +5 more
openaire   +2 more sources

X-linked Hypophosphatemic Rickets: the Challenges of Treatment

Clinical Reviews in Bone and Mineral Metabolism, 2019
X-linked dominant hypophosphatemic rickets (XLHR) is the most common inherited form of rickets due to a mutation in the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX gene) expressed in bones and teeth. This leads to impaired renal reabsorption of phosphate and defective bone mineralization.
Jessica Sammut, Miriam Giordano Imbroll, Mark Gruppetta   +2 more
openaire   +1 more source

X-linked hypophosphatemic rickets: a rare case report

Acta Orthopaedica Belgica
X-linked hypophosphatemic rickets (XLHR) is a rare hereditary disease. To date, the diagnosis and treatment of XLHR is still in dilemma due to a lack of cases. In the consensus recommendations for the XLHR proposed in Belgium, next-generation sequencing (NGS) is recommended in several genetic centers for PHEX and other skeletal dysplasia genes.
L, Yuan, W, Chen, G, Li, Y, Xu, G, Zhang, G, Zhou, S, Diao, H, Zhong   +7 more
openaire   +2 more sources

Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets

Journal of the American Academy of Orthopaedic Surgeons, 2015
X-linked hypophosphatemia is an inheritable disorder of renal phosphate wasting that clinically manifests with rachitic bone pathology. X-linked hypophosphatemia is frequently misdiagnosed and mismanaged. Optimized medical therapy is the cornerstone of treatment.
Melinda S, Sharkey, Karl, Grunseich, Thomas O, Carpenter   +2 more
openaire   +2 more sources

X‐linked hypophosphatemic rickets: A probable upper paleolithic case

American Journal of Physical Anthropology, 1995
AbstractThe skeleton of a middle‐aged adult male, found in the Late Epigravettian necropolis of Arene Candide cave (Italy) and dated to the XII millenniumB.C., exhibits abnormal changes, including bowing deformities, stunted growth, enthesopathies, and increased bone density.
openaire   +3 more sources

Longitudinal Growth in X-linked Hypophosphatemic Rickets

2011
X-linked hypophosphatemic rickets (XLH) is the most prevalent form of inherited rickets associated with a disorder of phosphate homeostasis. It is caused by deactivating mutations in the PHEX gene. The clinical manifestations are characterized by growth retardation, skeletal deformities, osteomalacia, dental abscesses, and bone pain.
Marius Schumacher, Olaf Hiort
openaire   +1 more source

[Genetic and clinical analysis of X-linked hypophosphatemic rickets].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2021
Objective: To investigate the clinical and genetic features, and treatment of X-linked hypophosphatemic rickets (XLH). Methods: In this retrospective study, we reviewed the medical records of 25 pediatric patients with XLH who were admitted to Department of Endocrinology Genetics and Metabolism,Beijing Children's Hospital from January 2010 to January ...
L Y, Wei, C X, Gong, B Y, Cao, X Q, Li, X J, Liang, W J, Li, D, Wu, M, Liu, C, Su, J J, Chen   +9 more
openaire   +1 more source

Clinical aspects of X-linked hypophosphatemic rickets.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2002
X-link hypophosphatemia (XLH) is the most common heritable form of rickets and is usually transmitted as an X-linked dominant disorder Until now there is no report about clinical data of XLH in Taiwan. We retrospectively studied 15 patients (5 males and 10 females) of XLH in our hospital in the past 18 years to delineate the clinical aspects of this ...
Wen-Ting, Chung, Dau-Ming, Niu, Ching-Yuang, Lin   +2 more
openaire   +1 more source

Tertiary Hyperparathyroidism in X-linked Hypophosphatemic Rickets

2018
female, 34 ...
openaire   +1 more source