Results 51 to 60 of about 4,812 (192)

Hypophosphatemic rickets: easy to diagnose, difficult to treat

, 1999
Hypophosphatemic Rickets (HR) has generated a lot of interest in recent times. There is need to recognize this disorder and differentiate it from the more common nutritional rickets because the therapy is different. It is also important to emphasize that
Tandon, Nikhil, Garg, Rajesh, Garg, Rajesh Kumar   +2 more
core   +1 more source

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

A bedridden young lady with hypophosphatemic rickets treated with denosumab: a case report

Journal of Medical Case Reports, 2021
Background Hypophosphatemic rickets is associated with delayed walking, bone deformities, growth failure and physical dysfunction that can limit daily activities. Treatment consists of phosphate salts and calcitriol.
Butheinah A. Al-Sharafi, Nuha A. Al-Yousfi, Said A. Bamashmus   +2 more
doaj   +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

Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets

, 2017
Tertiary hyperparathyroidism is a rare complication of X-linked hypophosphatemic rickets. The surgical treatment is already unclear. How to cite this article Ruiz EC, Cebrián JMF, Vega L, Linacero S, Celi E, Quintáns A.
Santiago Linacero, Jose Maria Fernandez Cebrian, Laura Vega, Edgardo Celi, Antonio Quintáns, Enrique Colás Ruiz   +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

X-linked Hypophosphatemic Rickets

Medical Archives, 2013
The aim of this work was the presentation of one case with X-linked hypophosphatemic rickets.Diagnosis has been established based on the anamnesis, physical examination, anthropometric measurements, laboratory tests and radiological examination.A male patient (age 3 years) has been hospitalized due to the growth delay, bone deformity, bone pain and ...
Mehmedali, Azemi, Majlinda, Berisha, Selim, Kolgeci, Vlora, Ismaili-Jaha, Rina, Hoxha, Teuta, Hoxha-Kamberi   +5 more
openaire   +2 more sources

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

Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria [PDF]

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare fibroblast growth factor-23-independent disorder caused by biallelic variants in the SLC34A3 gene.
Luciana Pinto Valadares, Daniel Rocha de Carvalho   +1 more
core   +1 more source

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