Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
| Autor: | Fatih Süheyl Ezgü, Gürsel Biberoğlu, Aslı İnci, Burcu Topcu Yüce, İlyas Okur, Filiz Başak Cengiz Ergin, Bahattin Çiftçi, Ercan Demir, Necla Buyan, Leyla Tümer, Rıdvan Murat Öktem |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Musculoskeletal pain Adult Male medicine.medical_specialty Endocrinology Diabetes and Metabolism Tooth Abnormality Hypophosphatasia 030209 endocrinology & metabolism Disease Gastroenterology 03 medical and health sciences 0302 clinical medicine Endocrinology Internal medicine Physicians medicine Humans Orthopedics and Sports Medicine Child Retrospective Studies business.industry ALPL Infant Recurrent fractures General Medicine Middle Aged medicine.disease Alkaline Phosphatase Child Preschool Orthopedic surgery Mutation Alkaline phosphatase Female 030101 anatomy & morphology business |
| Zdroj: | Journal of bone and mineral metabolismWeb resources. 39(4) |
| ISSN: | 1435-5604 |
| Popis: | 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. 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. 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. 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. |
| Databáze: | OpenAIRE |
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