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Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
J Pediatr Endocrinol Metab. 2015 Jul; 28(7-8):967-70.JP

Abstract

Autosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. Hearing loss was not previously thought to be one of the features of the disease entities and was merely regarded as a complication rather than a part of the disease. We report two children who presented in mid to late childhood with progressive varus deformity of their legs due to hypophosphatemic rickets caused by mutations in the ENPP1 gene. Both children had evidence of progressive hearing loss requiring the use of hearing aids. This report of two unrelated infants with compound heterozygous mutations in ENPP1 and previously published cases confirms that mild to moderate hearing loss is frequently associated with ARHR2. Early onset conductive hearing loss may further distinguish the autosomal recessive ENPP1 related type from other types of hypophosphatemia.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25741938

Citation

Steichen-Gersdorf, Elisabeth, et al. "Early Onset Hearing Loss in Autosomal Recessive Hypophosphatemic Rickets Caused By Loss of Function Mutation in ENPP1." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 28, no. 7-8, 2015, pp. 967-70.
Steichen-Gersdorf E, Lorenz-Depiereux B, Strom TM, et al. Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. J Pediatr Endocrinol Metab. 2015;28(7-8):967-70.
Steichen-Gersdorf, E., Lorenz-Depiereux, B., Strom, T. M., & Shaw, N. J. (2015). Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. Journal of Pediatric Endocrinology & Metabolism : JPEM, 28(7-8), 967-70. https://doi.org/10.1515/jpem-2014-0531
Steichen-Gersdorf E, et al. Early Onset Hearing Loss in Autosomal Recessive Hypophosphatemic Rickets Caused By Loss of Function Mutation in ENPP1. J Pediatr Endocrinol Metab. 2015;28(7-8):967-70. PubMed PMID: 25741938.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. AU - Steichen-Gersdorf,Elisabeth, AU - Lorenz-Depiereux,Bettina, AU - Strom,Tim Matthias, AU - Shaw,Nicholas J, PY - 2014/12/25/received PY - 2015/02/04/accepted PY - 2015/3/6/entrez PY - 2015/3/6/pubmed PY - 2016/4/15/medline SP - 967 EP - 70 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J Pediatr Endocrinol Metab VL - 28 IS - 7-8 N2 - Autosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. Hearing loss was not previously thought to be one of the features of the disease entities and was merely regarded as a complication rather than a part of the disease. We report two children who presented in mid to late childhood with progressive varus deformity of their legs due to hypophosphatemic rickets caused by mutations in the ENPP1 gene. Both children had evidence of progressive hearing loss requiring the use of hearing aids. This report of two unrelated infants with compound heterozygous mutations in ENPP1 and previously published cases confirms that mild to moderate hearing loss is frequently associated with ARHR2. Early onset conductive hearing loss may further distinguish the autosomal recessive ENPP1 related type from other types of hypophosphatemia. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/25741938/Early_onset_hearing_loss_in_autosomal_recessive_hypophosphatemic_rickets_caused_by_loss_of_function_mutation_in_ENPP1_ L2 - https://www.degruyter.com/document/doi/10.1515/jpem-2014-0531 DB - PRIME DP - Unbound Medicine ER -