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Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.
Bone. 2021 Dec; 153:116111.BONE

Abstract

Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known to develop in survivors of generalized arterial calcification of infancy (GACI). Both disorders are based on a deficiency of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and present with a high clinical variability and a lack of a phenotype-genotype association. ARHR2 is characterized by phosphate wasting due to elevated fibroblast growth factor 23 (FGF23) levels and might represent a response of the organism to minimize ectopic calcification in individuals with ENPP1-deficiency. This report reviews the recent clinical and preclinical data on this ultra-rare disease in childhood.

Authors+Show Affiliations

Center for Rare Diseases Ruhr CeSER, Ruhr-University Bochum and Witten/Herdecke University, Germany; Department of Pediatrics, St.-Josef Hospital Bochum, Ruhr-University Bochum, Bochum, Germany.Institute for Human Genetics, Universitätsmedizin Göttingen, Göttingen, Germany.Department of Pediatrics, St.-Josef Hospital Bochum, Ruhr-University Bochum, Bochum, Germany.Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.Center for Rare Diseases Ruhr CeSER, Ruhr-University Bochum and Witten/Herdecke University, Germany; Department of Pediatrics, St.-Josef Hospital Bochum, Ruhr-University Bochum, Bochum, Germany. Electronic address: corinna.grasemann@rub.de.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

34252603

Citation

Höppner, Jakob, et al. "Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Due to ENPP1-deficiency." Bone, vol. 153, 2021, p. 116111.
Höppner J, Kornak U, Sinningen K, et al. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency. Bone. 2021;153:116111.
Höppner, J., Kornak, U., Sinningen, K., Rutsch, F., Oheim, R., & Grasemann, C. (2021). Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency. Bone, 153, 116111. https://doi.org/10.1016/j.bone.2021.116111
Höppner J, et al. Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Due to ENPP1-deficiency. Bone. 2021;153:116111. PubMed PMID: 34252603.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency. AU - Höppner,Jakob, AU - Kornak,Uwe, AU - Sinningen,Kathrin, AU - Rutsch,Frank, AU - Oheim,Ralf, AU - Grasemann,Corinna, Y1 - 2021/07/09/ PY - 2021/05/03/received PY - 2021/07/01/revised PY - 2021/07/06/accepted PY - 2021/7/13/pubmed PY - 2021/7/13/medline PY - 2021/7/12/entrez KW - Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) KW - ENPP1 KW - FGF23 KW - Generalized arterial calcification of infancy (GACI) SP - 116111 EP - 116111 JF - Bone JO - Bone VL - 153 N2 - Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known to develop in survivors of generalized arterial calcification of infancy (GACI). Both disorders are based on a deficiency of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and present with a high clinical variability and a lack of a phenotype-genotype association. ARHR2 is characterized by phosphate wasting due to elevated fibroblast growth factor 23 (FGF23) levels and might represent a response of the organism to minimize ectopic calcification in individuals with ENPP1-deficiency. This report reviews the recent clinical and preclinical data on this ultra-rare disease in childhood. SN - 1873-2763 UR - https://www.unboundmedicine.com/medline/citation/34252603/Autosomal_recessive_hypophosphatemic_rickets_type_2__ARHR2__due_to_ENPP1_deficiency_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S8756-3282(21)00276-3 DB - PRIME DP - Unbound Medicine ER -
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