Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults
Hypophosphatasia (HPP) is an inherited disease caused by <i>ALPL</i> mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging. This study aims to clarify...
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MDPI AG
2023-04-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/4/922 |
| _version_ | 1797605330268454912 |
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| author | Xiang Li Na Ren Ziyuan Wang Ya Wang Yunqiu Hu Weiwei Hu Jiemei Gu Wei Hong Zhenlin Zhang Chun Wang |
| author_facet | Xiang Li Na Ren Ziyuan Wang Ya Wang Yunqiu Hu Weiwei Hu Jiemei Gu Wei Hong Zhenlin Zhang Chun Wang |
| author_sort | Xiang Li |
| collection | DOAJ |
| description | Hypophosphatasia (HPP) is an inherited disease caused by <i>ALPL</i> mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging. This study aims to clarify the clinical and genetic characteristics of HPP in Chinese adults. There were 19 patients, including 1 with childhood-onset and 18 with adult-onset HPP. The median age was 62 (32–74) years and 16 female patients were involved. Common symptoms included musculoskeletal symptoms (12/19), dental problems (8/19), fractures (7/19), and fatigue (6/19). Nine patients (47.4%) were misdiagnosed with osteoporosis and six received anti-resorptive treatment. The average serum ALP level was 29.1 (14–53) U/L and 94.7% (18/19) of patients had ALP levels below 40 U/L. Genetic analysis found 14 <i>ALPL</i> mutations, including three novel mutations—c.511C>G (p.His171Ala), c.782C>A (p.Pro261Gln), and 1399A>G (p.Met467Val). The symptoms of two patients with compound heterozygous mutations were more severe than those with heterozygous mutations. Our study summarized the clinical characteristics of adult HPP patients in the Chinese population, expanded the spectrum of pathogenic mutations, and deepened clinicians’ understanding of this neglected disease. |
| first_indexed | 2024-03-11T04:59:31Z |
| format | Article |
| id | doaj.art-e953d9fc25b946eebd9555bf187f88c9 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T04:59:31Z |
| publishDate | 2023-04-01 |
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| record_format | Article |
| series | Genes |
| spelling | doaj.art-e953d9fc25b946eebd9555bf187f88c92023-11-17T19:24:29ZengMDPI AGGenes2073-44252023-04-0114492210.3390/genes14040922Clinical and Genetic Characteristics of Hypophosphatasia in Chinese AdultsXiang Li0Na Ren1Ziyuan Wang2Ya Wang3Yunqiu Hu4Weiwei Hu5Jiemei Gu6Wei Hong7Zhenlin Zhang8Chun Wang9Shanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaShanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaShanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaShanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaShanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaShanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaShanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaDepartment of Osteoporosis & Shanghai Key Laboratory of Clinical Geriatric Medicine, Huadong Hospital, Fudan University, Shanghai 200040, ChinaClinical Research Center, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaShanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, ChinaHypophosphatasia (HPP) is an inherited disease caused by <i>ALPL</i> mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging. This study aims to clarify the clinical and genetic characteristics of HPP in Chinese adults. There were 19 patients, including 1 with childhood-onset and 18 with adult-onset HPP. The median age was 62 (32–74) years and 16 female patients were involved. Common symptoms included musculoskeletal symptoms (12/19), dental problems (8/19), fractures (7/19), and fatigue (6/19). Nine patients (47.4%) were misdiagnosed with osteoporosis and six received anti-resorptive treatment. The average serum ALP level was 29.1 (14–53) U/L and 94.7% (18/19) of patients had ALP levels below 40 U/L. Genetic analysis found 14 <i>ALPL</i> mutations, including three novel mutations—c.511C>G (p.His171Ala), c.782C>A (p.Pro261Gln), and 1399A>G (p.Met467Val). The symptoms of two patients with compound heterozygous mutations were more severe than those with heterozygous mutations. Our study summarized the clinical characteristics of adult HPP patients in the Chinese population, expanded the spectrum of pathogenic mutations, and deepened clinicians’ understanding of this neglected disease.https://www.mdpi.com/2073-4425/14/4/922hypophosphatasia<i>ALPL</i>mutationsChinaadult |
| spellingShingle | Xiang Li Na Ren Ziyuan Wang Ya Wang Yunqiu Hu Weiwei Hu Jiemei Gu Wei Hong Zhenlin Zhang Chun Wang Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults Genes hypophosphatasia <i>ALPL</i> mutations China adult |
| title | Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults |
| title_full | Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults |
| title_fullStr | Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults |
| title_full_unstemmed | Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults |
| title_short | Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults |
| title_sort | clinical and genetic characteristics of hypophosphatasia in chinese adults |
| topic | hypophosphatasia <i>ALPL</i> mutations China adult |
| url | https://www.mdpi.com/2073-4425/14/4/922 |
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