X-linked hypophosphatemic rickets: a new mutation [PDF]
Brazilian Journal of Nephrology, 2020 Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Patrícia Maio +7 more
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X-linked hypophosphatemic rickets: from diagnosis to management [PDF]
Clinical and Experimental PediatricsX-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts ...
Eujin Park, Hee Gyung Kang
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X-linked hypophosphatemic rickets: an Italian experts’ opinion survey [PDF]
Italian Journal of Pediatrics, 2019 Background X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23.
F. Emma +18 more
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X-linked hypophosphatemic rickets: Case report [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2014 Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation.
Radlović Vladimir +6 more
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A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia.
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
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Hypophosphatemic Rickets in Siblings: A Rare Case Report [PDF]
Case Reports in Dentistry, 2016 Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate ...
Gummadapu Sarat +5 more
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X-Linked Hypophosphatemic Rickets: A Pediatric Case Report [PDF]
Revista Portuguesa de Nefrologia e Hipertensão, 2022 X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets.
Isabel Rodrigues Leal Moitinho de Almeida +3 more
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X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing. Methods
Iara Sant’ Ana +5 more
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X-linked hypophosphatemic rickets with advanced bone age treated with aromatase inhibitor [PDF]
Endocrine Connections, 2023 We present an adolescent with X-linked hypophosphatemic rickets (XLH) with bone age advancement and its response to aromatase inhibitors (AIs). A male with XLH, confirmed with a deletion on the PHEX gene, received regular treatment since the first year ...
João Felipe Queiroz +3 more
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X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management [PDF]
Frontiers in Endocrinology, 2021 X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. It is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, which leads to reduced tubular reabsorption of phosphate and ...
Giampiero Igli Baroncelli, Stefano Mora
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