Prenatal‐Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo‐Recessive Phenotype
NGS analysis proves essential for diagnosis but requires comprehensive approaches to detect hypomorphic variants and underscores the necessity for comprehensive evaluation of hypomorphic alleles. Our findings demonstrate that prenatal detection does not necessarily predict rapid disease progression, offering new prognostic insights for severe ADPKD presentations that is extremely important for accurate genetic counseling. These results emphasize the need for functional studies of hypomorphic variants while providing a framework for clinical interpretation of early-onset ADPKD cases.
Authors
- Margarita Sharova (ORCID: https://orcid.org/0000-0003-3148-6915)
- Maria Bulakh (ORCID: https://orcid.org/0000-0002-8674-7230)
- Larisa Prikhodina (ORCID: https://orcid.org/0000-0002-0702-4932)
- С. Л. Морозов (ORCID: https://orcid.org/0000-0002-0942-0103)
- О. П. Рыжкова (ORCID: https://orcid.org/0000-0003-1285-9093)
- Наталя Семенова (ORCID: https://orcid.org/0000-0001-7041-045X)
- Dmitry Pustoshilov
- Marina Shumikchina
Institutions
- Pirogov Russian National Research Medical University (RU)
- 490 BioTech (United States) (US)
- Russian Children's Clinical Hospital (RU)
- Research Centre for Medical Genetics (RU)
- City Clinical Hospital No15 named. O. M. Filatova (RU)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-11-29
- DOI
- https://doi.org/10.1002/pd.70029
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00