Iron replacement ameliorates hypophosphatemia in autosomal dominant hypophosphatemic rickets: a review of the role of iron

LP Menon, RS Weinstein - Bone, 2020 - Elsevier
Autosomal dominant hypophosphatemic rickets (ADHR) is remarkable among the
hypophosphatemic rickets syndromes for its variable age of presentation and periods of …

Iron supplementation associated with loss of phenotype in autosomal dominant hypophosphatemic rickets

K Kapelari, J Köhle, D Kotzot… - The Journal of Clinical …, 2015 - academic.oup.com
Context: Autosomal dominant hypophosphatemic rickets (ADHR) is the only hereditary
disorder of renal phosphate wasting in which patients may regain the ability to conserve …

Congenital conditions of hypophosphatemia expressed in adults

G Marcucci, ML Brandi - Calcified Tissue International, 2021 - Springer
The main congenital conditions of hypophosphatemia expressed in adulthood include
several forms of hereditary hypophosphatemic rickets and a congenital disorder of vitamin D …

Approach to hypophosphatemic rickets

SA Ackah, EA Imel - The Journal of Clinical Endocrinology & …, 2023 - academic.oup.com
Hypophosphatemic rickets typically presents in infancy or early childhood with skeletal
deformities and growth plate abnormalities. The most common causes are genetic (such as …

Phosphate metabolism and iron deficiency

K Yokoyama - Clinical Calcium, 2016 - europepmc.org
Autosomal dominant hypophosphatemic rickets (ADHR) is caused by gain-of-function
mutations in FGF23 that prevent its proteolytic cleavage. Fibroblast growth factor 23 (FGF23) …

Hypophosphatemic rickets and short stature

K Davis, EA Imel, J Kelley - Journal of Bone and Mineral …, 2024 - academic.oup.com
Vignette An 18-month-old male presented with gross motor delay and poor growth (weight z-
score− 2.21, length z-score− 4.26). Radiographs showed metaphyseal irregularities …

Iron and fibroblast growth factor 23 in X-linked hypophosphatemia

EA Imel, AK Gray, LR Padgett, MJ Econs - Bone, 2014 - Elsevier
Background Excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia in
autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia …

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

C Bergwitz, KI Miyamoto - Pflügers Archiv-European Journal of Physiology, 2019 - Springer
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare
autosomal recessive disorder with an estimated prevalence of 1: 250,000 that was originally …

Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood

M Seton, H Jüppner - Bone, 2013 - Elsevier
BACKGROUND: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic
disorder of phosphate homeostasis characterized, when severely expressed, by …

Oral iron replacement normalizes fibroblast growth factor 23 in iron‐deficient patients with autosomal dominant hypophosphatemic rickets

EA Imel, Z Liu, M Coffman, D Acton… - Journal of Bone and …, 2020 - academic.oup.com
Autosomal dominant hypophosphatemic rickets (ADHR) is caused by mutations impairing
cleavage of fibroblast growth factor 23 (FGF23). FGF23 gene expression increases during …