Clinical and genetic characteristics and follow-up of 12 children with hypophosphatasia
- 1Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China
Abstract
ObjectiveTo summarize the clinical and genetic characteristics and follow-up data of children with hypophosphatasia (HPP).MethodsA retrospective analysis was conducted of 12 children with HPP who were treated at Shanghai Children's Medical Center between January 2018 and August 2025, including clinical features, genetic testing results, and follow-up data.ResultsOf the 12 children, 1 had infantile HPP, 8 had childhood HPP, and 3 had odonto-HPP. Common manifestations included non-traumatic premature loss of primary teeth (n=11), skeletal deformities (n=6), and short stature (n=5). The median age at symptom onset was 23.50 months, and the median age at clinical diagnosis was 38.50 months. The serum alkaline phosphatase standard deviation score was lower in children with childhood HPP than in those with odonto-HPP (P<0.05). A total of 19 ALPL variants were identified, six of which had not been previously reported: c.191T>A (p.Val64Asp), c.1407C>A (p.His469Gln), c.351C>G (p.Tyr117Ter), c.1007T>C (p.Ile336Thr), c.1280delins14 (p.Glu427Glyfs*), and c.181+5G>C. Seven children carried compound heterozygous variants, and five carried a single heterozygous variant. All three children with odonto-HPP carried only a single heterozygous variant.ConclusionsHPP in children shows clinical and genetic heterogeneity, and clinical diagnosis may be delayed. Non-traumatic premature loss of primary teeth and ALPL variants are important features of HPP. There are significant differences in the levels of serum alkaline phosphatase among different subtypes. For suspected cases, serum ALP testing and ALPL genetic testing should be completed promptly.
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BibTeX
@article{shuo2026clinical,
title = {{Clinical and genetic characteristics and follow-up of 12 children with hypophosphatasia}},
author = {WU Shuo and WANG Yi-Rou and HU Jia-Yue and CHANG Guo-Ying and LI Xin and LI Qun and DING Yu and YU Ting-Ting and WANG Xiu-Min},
journal = {中国当代儿科杂志},
year = {2026},
month = oct,
doi = {10.7499/j.issn.1008-8830.2606161},
url = {https://doi.org/10.7499/j.issn.1008-8830.2606161},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Clinical and genetic characteristics and follow-up of 12 children with hypophosphatasia
AU - WU Shuo
AU - WANG Yi-Rou
AU - HU Jia-Yue
AU - CHANG Guo-Ying
AU - LI Xin
AU - LI Qun
AU - DING Yu
AU - YU Ting-Ting
AU - WANG Xiu-Min
PY - 2026
DA - 2026/10/23
JO - 中国当代儿科杂志
DO - 10.7499/j.issn.1008-8830.2606161
UR - https://doi.org/10.7499/j.issn.1008-8830.2606161
AB - ObjectiveTo summarize the clinical and genetic characteristics and follow-up data of children with hypophosphatasia (HPP).MethodsA retrospective analysis was conducted of 12 children with HPP who were treated at Shanghai Children's Medical Center between January 2018 and August 2025, including clinical features, genetic testing results, and follow-up data.ResultsOf the 12 children, 1 had infantile HPP, 8 had childhood HPP, and 3 had odonto-HPP. Common manifestations included non-traumatic premature loss of primary teeth (n=11), skeletal deformities (n=6), and short stature (n=5). The median age at symptom onset was 23.50 months, and the median age at clinical diagnosis was 38.50 months. The serum alkaline phosphatase standard deviation score was lower in children with childhood HPP than in those with odonto-HPP (P<0.05). A total of 19 ALPL variants were identified, six of which had not been previously reported: c.191T>A (p.Val64Asp), c.1407C>A (p.His469Gln), c.351C>G (p.Tyr117Ter), c.1007T>C (p.Ile336Thr), c.1280delins14 (p.Glu427Glyfs*), and c.181+5G>C. Seven children carried compound heterozygous variants, and five carried a single heterozygous variant. All three children with odonto-HPP carried only a single heterozygous variant.ConclusionsHPP in children shows clinical and genetic heterogeneity, and clinical diagnosis may be delayed. Non-traumatic premature loss of primary teeth and ALPL variants are important features of HPP. There are significant differences in the levels of serum alkaline phosphatase among different subtypes. For suspected cases, serum ALP testing and ALPL genetic testing should be completed promptly.
SN - 1008-8830
SN - 2096-9228
ER -