Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights
PHP1B can present with nonspecific hypokalemia, mimicking GS. Definitive diagnosis requires combined WES and methylation analysis, particularly in WES-negative cases with PTH resistance and intracranial calcifications. Therapeutic focus should prioritize calcium/calcitriol over potassium supplementation, with epigenetic heterogeneity guiding long-term management.
Authors
- Lijun Mou (ORCID: https://orcid.org/0000-0003-1151-6064)
- Yiming Zhao (ORCID: https://orcid.org/0000-0003-4326-9790)
- Jiudan Zhang
- Oumayma Akaaboune
Institutions
- Second Affiliated Hospital of Zhejiang University (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-14
- DOI
- https://doi.org/10.3389/fgene.2025.1638472
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.82