Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency

Jakob Höppner; Uwe Kornak; Kathrin Sinningen; Frank Rutsch; Ralf Oheim; Corinna Grasemann

doi:10.1016/j.bone.2021.116111

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency

Standard

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency. / Höppner, Jakob; Kornak, Uwe; Sinningen, Kathrin; Rutsch, Frank; Oheim, Ralf; Grasemann, Corinna.

In: BONE, Vol. 153, 116111, 12.2021.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Harvard

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, vol. 153, 116111. https://doi.org/10.1016/j.bone.2021.116111

APA

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

Vancouver

Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency. BONE. 2021 Dec;153. 116111. https://doi.org/10.1016/j.bone.2021.116111

Bibtex

@article{9837f76a01704660855d81c5cd275c5b,

title = "Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency",

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.",

keywords = "Familial Hypophosphatemic Rickets/genetics, Fibroblast Growth Factor-23, Fibroblast Growth Factors, Humans, Phosphates, Phosphoric Diester Hydrolases/genetics, Pyrophosphatases/genetics, Rickets, Hypophosphatemic/genetics",

author = "Jakob H{\"o}ppner and Uwe Kornak and Kathrin Sinningen and Frank Rutsch and Ralf Oheim and Corinna Grasemann",

year = "2021",

month = dec,

doi = "10.1016/j.bone.2021.116111",

language = "English",

volume = "153",

journal = "BONE",

issn = "8756-3282",

publisher = "Elsevier Inc.",

}

RIS

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

PY - 2021/12

Y1 - 2021/12

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.

AB - 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.

KW - Familial Hypophosphatemic Rickets/genetics

KW - Fibroblast Growth Factor-23

KW - Fibroblast Growth Factors

KW - Humans

KW - Phosphates

KW - Phosphoric Diester Hydrolases/genetics

KW - Pyrophosphatases/genetics

KW - Rickets, Hypophosphatemic/genetics

U2 - 10.1016/j.bone.2021.116111

DO - 10.1016/j.bone.2021.116111

M3 - SCORING: Review article

C2 - 34252603

VL - 153

JO - BONE

JF - BONE

SN - 8756-3282

M1 - 116111

ER -