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March 4, 20260 citations

Dual Genetic Inheritance of Kidney Disease: ADPKD and Alport Syndrome

The Inheritance Puzzle: A Case of Dual Genetic Kidney Disease.

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Authors

SSSabarinath ShanmugamKMKarthikeyan ManoharanSPS. Parameswaran

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Overview

This report demonstrates dual diagnosis of ADPKD and Alport Syndrome in a single individual, suggesting complexities in inheritance patterns.

Key Points

  • Investigate the rare occurrence of dual genetic kidney diseases, ADPKD and Alport Syndrome, in one individual.
  • Described a unique case with dual diagnosis of ADPKD and AS.
  • Utilized next-generation sequencing to identify PKD1 and COL4A5 variants.
  • Employed Sanger sequencing to confirm paternal variant and assess maternal inheritance.
  • Applied amplicon-based deep sequencing to detect low-level mosaicism in the mother.
  • Identified distinct genetic variants in both parents contributing to dual kidney disease.
  • Confirmed low-level mosaicism for the COL4A5 variant in the mother despite initial negative testing.
  • Underscored the importance of comprehensive genetic evaluation in complex inheritance cases.
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Cite This Study

Shanmugam et al. (2026) studied this question.

synapsesocial.com/papers/69a7cd8cd48f933b5eed9f92https://doi.org/10.1111/nep.70178
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