Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia

Rie Chida-Naomiya; Masaru Shimura; Ryuhei Nagao; Atsushi Kumada; Hisashi Kawashima

Molecular Genetics and Metabolism Reports (Sep 2020)

Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia

Rie Chida-Naomiya,
Masaru Shimura,
Ryuhei Nagao,
Atsushi Kumada,
Hisashi Kawashima

Affiliations

Rie Chida-Naomiya: Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan
Masaru Shimura: Corresponding author.; Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan
Ryuhei Nagao: Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan
Atsushi Kumada: Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan
Hisashi Kawashima: Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan

Journal volume & issue: Vol. 24
p. 100612

Abstract

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Hearing impairment is a neurological symptom of hypophosphatasia (HPP), which leads to a reduced quality of life. However, the pathomechanism of hearing impairment and the effects of asfotase alfa enzyme replacement therapy on hearing function in HPP have not been clarified. Here we report a case and present clinical data of a patient with perinatal HPP whose hearing impairment improved after asfotase alfa treatment.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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