Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia
Introduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic profiles. Methods: The study included patients with...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-03-01
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| Series: | Indian Journal of Endocrinology and Metabolism |
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| Online Access: | https://journals.lww.com/10.4103/ijem.ijem_378_24 |
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| author | Melkunte S. Dhananjaya S. Thrupti Hamsa V. Reddy Anusha Nadig Kenchappa S. Adarsh Swati Jadhav Parvathy Lalitha Sandhya Nair Shaila Bhattacharyya Anurag Lila Vijaya Sarathi |
| author_facet | Melkunte S. Dhananjaya S. Thrupti Hamsa V. Reddy Anusha Nadig Kenchappa S. Adarsh Swati Jadhav Parvathy Lalitha Sandhya Nair Shaila Bhattacharyya Anurag Lila Vijaya Sarathi |
| author_sort | Melkunte S. Dhananjaya |
| collection | DOAJ |
| description | Introduction:
Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic profiles.
Methods:
The study included patients with genetically proven hypophosphatasia managed at different healthcare centers in South India. The participants’ case records were reviewed, and relevant phenotypic and genotypic information was collected and analyzed.
Results:
Case 1 presented at 4 months of age for failure to thrive, found to have persistent hypercalcemia for which she received bisphosphonate therapy. A low alkaline phosphatase was recognized later. Case 2 presented during adolescence with bilateral genu valgus and delayed dentition with classical tongue-like translucencies on radiology and low alkaline phosphatase. Genetic evaluation in cases 1 and 2 revealed compound heterozygous variants in the ALPL gene. Case 1 received asfotase alfa with remarkable improvement in growth. Case 3 presented with multiple vertebral fractures at 33 years of age whereas cases 4 (42 years) and 5 (63 years) presented with musculoskeletal pains with delayed diagnosis for 8 and 13 years, respectively. Cases 3–5 had heterozygous variants in the ALPL gene.
Conclusions:
In the largest case series of hypophosphatasia from India, we report five cases of hypophosphatasia with two novel variants. Our study emphasizes the need to increase awareness regarding the disease to improve its early diagnosis and also, the need to form strategies to reduce the challenges in obtaining enzyme replacement therapy for hypophosphatasia in India. |
| format | Article |
| id | doaj-art-8f9d9b8cb73f429b86edfd6c4d21c3b4 |
| institution | Kabale University |
| issn | 2230-8210 2230-9500 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Endocrinology and Metabolism |
| spelling | doaj-art-8f9d9b8cb73f429b86edfd6c4d21c3b42025-08-20T03:48:46ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-82102230-95002025-03-0129218819410.4103/ijem.ijem_378_24Phenotypic and Genotypic Spectrum of Indian Patients with HypophosphatasiaMelkunte S. DhananjayaS. ThruptiHamsa V. ReddyAnusha NadigKenchappa S. AdarshSwati JadhavParvathy LalithaSandhya NairShaila BhattacharyyaAnurag LilaVijaya SarathiIntroduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic profiles. Methods: The study included patients with genetically proven hypophosphatasia managed at different healthcare centers in South India. The participants’ case records were reviewed, and relevant phenotypic and genotypic information was collected and analyzed. Results: Case 1 presented at 4 months of age for failure to thrive, found to have persistent hypercalcemia for which she received bisphosphonate therapy. A low alkaline phosphatase was recognized later. Case 2 presented during adolescence with bilateral genu valgus and delayed dentition with classical tongue-like translucencies on radiology and low alkaline phosphatase. Genetic evaluation in cases 1 and 2 revealed compound heterozygous variants in the ALPL gene. Case 1 received asfotase alfa with remarkable improvement in growth. Case 3 presented with multiple vertebral fractures at 33 years of age whereas cases 4 (42 years) and 5 (63 years) presented with musculoskeletal pains with delayed diagnosis for 8 and 13 years, respectively. Cases 3–5 had heterozygous variants in the ALPL gene. Conclusions: In the largest case series of hypophosphatasia from India, we report five cases of hypophosphatasia with two novel variants. Our study emphasizes the need to increase awareness regarding the disease to improve its early diagnosis and also, the need to form strategies to reduce the challenges in obtaining enzyme replacement therapy for hypophosphatasia in India.https://journals.lww.com/10.4103/ijem.ijem_378_24alpl genehypophosphatasiaindia |
| spellingShingle | Melkunte S. Dhananjaya S. Thrupti Hamsa V. Reddy Anusha Nadig Kenchappa S. Adarsh Swati Jadhav Parvathy Lalitha Sandhya Nair Shaila Bhattacharyya Anurag Lila Vijaya Sarathi Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia Indian Journal of Endocrinology and Metabolism alpl gene hypophosphatasia india |
| title | Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia |
| title_full | Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia |
| title_fullStr | Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia |
| title_full_unstemmed | Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia |
| title_short | Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia |
| title_sort | phenotypic and genotypic spectrum of indian patients with hypophosphatasia |
| topic | alpl gene hypophosphatasia india |
| url | https://journals.lww.com/10.4103/ijem.ijem_378_24 |
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