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Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

Abstract：

INTRODUCTION:Hypophosphatasia (HPP) is caused by mutations in the ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (ALP). Clinical manifestations range from extreme life-threatening lethal forms to no signs or symptoms at all. MATERIALS AND METHODS:Consecutive 30,000 outpatients and inpatients with ALP data were screened retrospectively, out of which 1000 patients were found to have low levels of ALP more than once. Then, patients were evaluated for the symptoms and signs of HPP with further biochemical and genetic analyses. RESULTS:Thirty-seven patients who had severe musculoskeletal pain, recurrent fractures, and tooth anomalies were then screened with substrate and DNA sequencing analyses for HPP. It was determined that eight patients had variants in the ALPL gene. A total of eight different ALPL variants were identified in eight patients. The variants, namely c.244G > C (p.Gly82Arg), c.1444C > T (p.His482Tyr), c.1487A > G (p.Asn493Ser), and c.675_676insCA (p.Met226GlnfsTer52), had not been previously reported. DISCUSSION:Considering the wide spectrum of clinical signs and symptoms, HPP should be among the differential lists of bone, muscle, and tooth abnormalities at any age.

journal_name

J Bone Miner Metab

journal_title

Journal of bone and mineral metabolism

authors

İnci A,Ergin FBC,Yüce BT,Çiftçi B,Demir E,Buyan N,Okur İ,Biberoğlu G,Öktem RM,Tümer L,Ezgü FS

doi

10.1007/s00774-020-01193-z

subject

Has Abstract

pub_date

2021-01-06 00:00:00

eissn

0914-8779

issn

1435-5604

pii

10.1007/s00774-020-01193-z

pub_type

杂志文章

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