Kidney Week 2025 Early Program - Genetics in Clinical Nephrology-Tips and Tricks When Evaluating a Patient Who May Have an Inherited Kidney Disease

Video Transcription

Video Summary

The speaker presents practical guidance for evaluating patients who may have inherited kidney disease, focusing on how to collect a meaningful family history and use it to guide genetic testing. Clues suggesting a genetic etiology include multiple affected relatives, early/sudden deaths, multisystem disease, excess affected males, consanguinity or isolated populations, and early onset or unusually severe disease in the patient. Because patients may not know what details matter, clinicians should ask specific, systematic questions (not “Is everyone well?”), document age of onset, serious illnesses/hospitalizations, surgeries, and miscarriages/stillbirths.<br /><br />Drawing a pedigree helps organize information and infer inheritance patterns (autosomal recessive, X-linked, autosomal dominant) and estimate risk to the patient and relatives. Asking about extra-renal features can be diagnostic (eye disease, hearing loss, heart defects, polydactyly, obesity, developmental or psychiatric issues, dysmorphism).<br /><br />Before testing, clinicians should clarify the goal (confirm diagnosis, guide management/prognosis, transplant planning, avoid ineffective therapy, access trials, end diagnostic odyssey, reproductive planning, cascade testing). After testing: confirm results fit the phenotype; use positives to guide care and screening; do not act on variants of uncertain significance (VUS), but consider phenotype updates, segregation testing, de novo status, and research/databases (e.g., Genome Connect) to aid reclassification. Negative results may prompt broader testing or research referral. The talk ends with recommended clinical and patient-facing online resources.

Asset Subtitle

Hila Milo Rasouly

Keywords

inherited kidney disease

family history assessment

pedigree analysis

genetic testing indications

inheritance patterns (autosomal dominant/recessive, X-linked)

variants of uncertain significance (VUS) interpretation

cascade testing and transplant planning