Diagnosing Mendelian Kidney Disease: Hidden Niches in the (Kidney) Genome.
Arif B Ekici, Karl X Knaup, Céline Schaeffer et al.
✦ AI-curated · Sources linked
Case in brief
A family with a history of autosomal dominant kidney disease presented with renal failure in middle adulthood. Genetic analysis revealed the index patient had both autosomal dominant polycystic kidney disease (ADPKD) due to a PKD1 variant and autosomal dominant tubulointerstitial kidney disease (ADTKD) linked to UMOD. The PKD1 variant was identified through long-range amplification and whole genome sequencing, not exome sequencing.
What made this case unusual
The case highlights the limitations of standard exome sequencing in detecting certain pathogenic variants, necessitating the use of traditional long-range amplification and whole genome sequencing for accurate diagnosis.
Diagnostic / clinical pearl
Clinicians should consider comprehensive genetic testing methods beyond exome sequencing when diagnosing complex Mendelian kidney diseases, as some variants may be missed.
Why it matters
This case underscores the importance of utilizing advanced genetic techniques to improve diagnostic accuracy in hereditary kidney diseases, which can significantly impact patient management.