Results 61 to 70 of about 11,040 (189)

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Brazilian Journal of Nephrology, 2020
Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent ...
Rachita Singh Dhull, Reena Jain, Bobbity Deepthi, Hae II Cheong, Abhijeet Saha, Mohit Mehndiratta, Srikanta Basu   +6 more
doaj   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Osteomalacia Following Iron Infusion Therapy in a Patient With Rendu‐Osler‐Weber Syndrome: F‐18‐FDG PET/CT Discrimination of a Stress Fracture in the Setting of a Musculoskeletal Tumor Mimic

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT This case report highlights a rare occurrence of osteomalacia induced by hypophosphatemia secondary to ferric carboxymaltose (FCM) therapy in a patient with hereditary hemorrhagic telangiectasia (HHT, or Rendu‐Osler‐Weber syndrome). A 21‐year‐old man presented with left tibial pain without prior trauma, accompanied by severe hypophosphatemia ...
Ioannis S. Vasios, Pipitsa N. Valsamaki, Konstantinos Tilkeridis, Savvas Deftereos, Efthymios Iliopoulos   +4 more
wiley   +1 more source

Dental alterations associated with X-linked hypophosphatemic rickets

, 2015
The X-linked hypophosphatemic rickets is a rare metabolic disorder characterized by low serum phosphate levels caused by a decreased renal tubular reabsorption of inorganic phosphates.
de Andrade, CR, Vargas, PA, de Almeida, OP, Della Coletta, R, Lopes, MA, Pereira, CM   +5 more
core   +1 more source

Lysophosphatidic Acid Synergizes With 1,25‐Dihydroxyvitamin D to Promote Fibroblast Growth Factor‐23 Synthesis via MAPK Signaling and Induction of the IL12A Gene

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay, Sajin Marcus Cyr, Yorihiro Iwasaki, Elizabeth Hill, Eugene P. Rhee, Nevil J. Singh, Petra Simic, Murat Bastepe   +7 more
wiley   +1 more source

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022)

Orphanet Journal of Rare Diseases
Background Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life.
Frank Hernández-García, Helena Gil-Peña, José M. López, Rocío Fuente, Patricia Oro Carbajosa, Ibraín Enrique Corrales-Reyes, Julián Rodríguez Suárez   +6 more
doaj   +1 more source

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Orphanet Journal of Rare Diseases, 2010
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to
Pérez-Menéndez Teresa M, Coto Eliecer, Gil-Peña Helena, Mejia-Gaviria Natalia, Santos Fernando   +4 more
doaj   +1 more source

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
doaj   +1 more source

Renal rickets-practical approach

Indian Journal of Endocrinology and Metabolism, 2013
Rickets/osteomalacia is an important problem in a tropical country. Many cases are due to poor vitamin D intake or calcium deficient diets and can be corrected by administration of calcium and vitamin D.
Manisha Sahay, Rakesh Sahay
doaj   +1 more source

Burosumab in Unidentifiable Tumor‐Induced Osteomalacia

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Tumor‐induced osteomalacia (TIO) can be challenging due to underlying tumors being either unresectable or unidentifiable. Burosumab, an anti‐FGF23 monoclonal antibody, has been proven to be effective in treating TIO but is currently not subsidized for this indication in Australia.
Yi Shan Der, Santosh Chaubey, Anna Mclean, Yasmin Trinh, Shelley Pember, Ashim Sinha   +5 more
wiley   +1 more source