Results 1 to 10 of about 7,233,987 (192)

Treatment of X-Linked Hypophosphatemia in Children

Endocrines, 2022
The conventional treatment for X-linked hypophosphatemia (XLH), consisting of phosphorus supplementation and a biologically active form of vitamin D (alfacalcidol or calcitriol), is used to treat rickets and leg deformities and promote growth.
Toshihiro Tajima, Yukihiro Hasegawa
doaj   +3 more sources

X-Linked Hypophosphatemia Transition and Team Management

Endocrines, 2022
X-linked hypophosphatemia (XLH) is the most common form of inherited disorders that are characterized by renal phosphate wasting, but it is a rare chronic disease.
Takuo Kubota
doaj   +2 more sources

Adult Presentation of X-Linked Hypophosphatemia

Endocrines, 2022
Adult X-linked hypophosphatemia (XLH) patients present with specific symptoms, including enthesopathies (e.g., ossification of longitudinal ligaments (OPLL), osteophytes around large joints, and enthesopathy in the Achilles tendons), early osteoarthritis,
Nobuaki Ito
doaj   +2 more sources

Special Issue: “X-Linked Hypophosphatemia”

Endocrines, 2023
Rickets and osteomalacia are associated with impaired mineralization in growth plate cartilage and the bone osteoid [...]
Seiji Fukumoto, Yukihiro Hasegawa
doaj   +2 more sources

Determinants of final height in X-linked hypophosphatemia: impact of diagnostic delay and baseline growth in a Brazilian cohort [PDF]

Frontiers in Pediatrics
BackgroundX-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by impaired phosphate metabolism, leading to rickets and growth failure.
Mauro Borghi, Mauro Borghi, João Pedro Borghi Moreira, Leopoldo Muniz da Silva   +3 more
doaj   +2 more sources

Longitudinal Single-Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X-Linked Hypophosphatemia. [PDF]

Pediatr Discov
This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Xie Y, Li L, Li R, Sun Y, Zhou T, Cun Y, Zhu G.   +6 more
europepmc   +2 more sources

Biochemical evaluation of X-linked hypophosphatemia and tumor-induced osteomalacia: insights into diagnosis and management [PDF]

Frontiers in Endocrinology
IntroductionX-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) are characterized by alterations in phosphate metabolism due to elevated levels of fibroblast growth factor 23 (FGF23).
Jorge Díaz-Garzón Marco, Pilar Aguado Acín, Esteban Jodar Gimeno, Esteban Jodar Gimeno, Pilar Fernández Calle, Vanessa Lopes Martín, María Luisa González-Casaus   +6 more
doaj   +2 more sources

Clinical features of Italian adult individuals with X-linked hypophosphatemia: a multicenter retrospective study [PDF]

Endocrine Connections
Objective: X-linked hypophosphatemia (XLH) is the most common congenital phosphate disorder affecting individuals throughout the lifespan. We investigated the skeletal burden, the cardiovascular involvement, the diagnostic performance and the therapeutic
Silvia Carrara, Giampiero I Baroncelli, Gaetano Paride Arcidiacono, Marco Barale, Maria Luisa Brandi, Valentina Camozzi, Elena Castellano, Filomena Cetani, Pasquale Comberiati, Simone Della Valentina, Cristina Eller-Vainicher, Nadia Edvige Foligno, Sandro Giannini, Laura Gianotti, Giorgia Grassi, Martina Laganà, Silvia Lai, Gemma Marcucci, Laura Masi, Francesca Paglia, Andrea Palermo, Adolfo Marco Perrotta, Francesca Pigliaru, Massimo Procopio, Vincenzo Rochira, Silverio Rotondi, Rosaria Maddalena Ruggeri, Marco Onofrio Torres, Silvia Vai, Giuseppe Vezzoli, Marta Zampogna, Sabrina Corbetta   +31 more
doaj   +2 more sources

Short stature in pre-pubertal children with X-linked hypophosphatemia [PDF]

Endocrine Connections
Objective: Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.
Hanting Liang, Wenting Qi, Chenxi Jin, Cong Zhang, Yushuo Wu, Xiaosen Ma, Qianqian Pang, Ruizhi Jiajue, Yue Chi, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Jiajun Zhao, Weibo Xia   +15 more
doaj   +2 more sources

A case report of X-linked hypophosphatemia combined with primary hyperparathyroidism [PDF]

Frontiers in Endocrinology
Both hypophosphatemic osteomalacia and primary hyperparathyroidism (PHPT) can lead to hypophosphatemia, but their simultaneous occurrence in the same patient is exceedingly rare.
YinQiong Wu, Min Yang, Ying Zhang, Qin Wang   +3 more
doaj   +2 more sources