Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner, F Emma, L Seefried, W Högler… - Nature Reviews …, 2025 - nature.com
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic
variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and …

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked …

A Trombetti, N Al-Daghri, ML Brandi… - Nature Reviews …, 2022 - nature.com
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-
associated rickets of genetic origin and is associated with high levels of the phosphaturic …

FGF23 and its role in X-linked hypophosphatemia-related morbidity

SS Beck-Nielsen, Z Mughal, D Haffner… - Orphanet Journal of …, 2019 - Springer
Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate
metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …

Regulation and function of the FGF23/klotho endocrine pathways

A Martin, V David, LD Quarles - Physiological reviews, 2012 - journals.physiology.org
Calcium (Ca2+) and phosphate (PO43−) homeostasis are coordinated by systemic and local
factors that regulate intestinal absorption, influx and efflux from bone, and kidney excretion …

A clinician's guide to X‐linked hypophosphatemia

TO Carpenter, EA Imel, IA Holm… - Journal of Bone and …, 2011 - academic.oup.com
X‐linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting,
and the most common form of heritable rickets. Physicians, patients, and support groups …

Rickets

TO Carpenter, NJ Shaw, AA Portale, LM Ward… - Nature Reviews …, 2017 - nature.com
Rickets is a bone disease associated with abnormal serum calcium and phosphate levels.
The clinical presentation is heterogeneous and depends on the age of onset and …

Tumor-induced osteomalacia

WH Chong, AA Molinolo, CC Chen… - Endocrine-related …, 2011 - erc.bioscientifica.com
Somatostatin receptor imaging (SRI) with [111 In-DTPA 0] octreotide has proven its role in
the diagnosis and staging of gastroenteropancreatic neuroendocrine tumors (GEPNETs) …

Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation

R Goetz, Y Nakada, MC Hu, H Kurosu… - Proceedings of the …, 2010 - National Acad Sciences
Fibroblast growth factor (FGF) 23 inhibits renal phosphate reabsorption by activating FGF
receptor (FGFR) 1c in a Klotho-dependent fashion. The phosphaturic activity of FGF23 is …

Physiology and pathophysiology of the calcium-sensing receptor in the kidney

D Riccardi, EM Brown - American Journal of Physiology …, 2010 - journals.physiology.org
The extracellular calcium-sensing receptor (CaSR) plays a major role in the maintenance of
a physiological serum ionized calcium (Ca2+) concentration by regulating the circulating …

The PTH-vitamin d-FGF23 axis

JE Blau, MT Collins - Reviews in Endocrine and Metabolic Disorders, 2015 - Springer
Abstract Fibroblast growth factor 23 (FGF23) has emerged as an important regulator of
phosphate and vitamin D homeostasis. It is important to understand how FGF23 interacts …