ORIGINAL RESEARCH article
Front. Pediatr.
Sec. General Pediatrics and Pediatric Emergency Care
Volume 13 - 2025 | doi: 10.3389/fped.2025.1562878
Comprehensive Treatment Approaches for Skeletal Deformities in Hypophosphatasia: A Case Study of ALPL Gene Variants
Provisionally accepted
- Lanzhou University Second Hospital, Lanzhou, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
This study presents a case report of an 11-year-old boy with hypophosphatasia due to compound heterozygous ALPL gene genetic variants, focusing on the treatment effects of comprehensive approaches for this rare genetic disorder. The patient's diagnosis was established based on respiratory distress and cough, accompanied by anterior chest wall protrusion and flattened thorax upon physical examination. Laboratory findings showed blood and cardiac abnormalities, and genetic testing identified pathogenic ALPL variants. The treatment included corrective surgery for chest wall deformities and thoracic reshaping, which led to a gradual normalization of biochemical markers postoperatively, including creatinine, calcium, magnesium, and phosphate levels, with sustained low alkaline phosphatase levels. Following surgery, respiratory function improved, as evidenced by a follow-up chest CT scan showing recovery of chest structure and resolution of lung abnormalities one-month post-discharge. This case highlights the significant enhancement in chest structure and respiratory function in patients with hypophosphatasia with ALPL gene genetic variants through comprehensive treatment strategies, emphasizing the pivotal role of genetic testing in diagnosis and the benefits of interdisciplinary collaboration in long-term patient care and quality of life enhancement.
Keywords: Hypophosphatasia, ALPL genetic variants, Corrective Chest Wall Deformity, Pediatric Genetic Disease, Multidisciplinary treatment, Respiratory dysfunction
Received: 18 Jan 2025; Accepted: 12 Jun 2025.
Copyright: © 2025 Jiao, Ma # and Ni. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Qian Ni, Lanzhou University Second Hospital, Lanzhou, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.