Kidney Week 2025 Early Program - Genetics in Clinical Nephrology-10 Tips on How to Take a Proper Family History in CKD Patient Care

10 Tips on How to Take a Proper Family History in CKD Patient Care

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This Clinical Kidney Journal review argues that a systematic family history is essential in chronic kidney disease (CKD) care because inherited kidney disease is more common than previously thought (estimated 10%–30% of adults with CKD). Despite this, kidney-focused family histories are often incomplete outside of classic entities like ADPKD or Alport syndrome, leading to missed diagnoses and suboptimal referral for genetic testing. A well-documented pedigree can improve diagnostic accuracy, estimate pre-test probability for genetic testing, and guide renal risk counselling and screening of relatives. Family history also captures shared environmental and polygenic risks; CKD has substantial heritability and many patients report affected relatives.<br /><br />The authors provide 10 practical tips for clinicians. Key recommendations include preparing patients in advance (e.g., a pre-visit letter) so they can gather relevant records such as creatinine/proteinuria results, imaging, and prior genetic tests; allowing adequate time and recognizing that complete data may require multiple visits; asking about each relative individually with clear, specific, lay-language questions (including dialysis, transplantation, age of onset, and relevant extrarenal features such as hearing loss or gout); and rephrasing questions to trigger recall of memorable events. Clinicians should anticipate variable expressivity and incomplete penetrance in genetic kidney disorders, which can make family history appear falsely negative (examples include HNF1B- and PAX2-related disease with diverse presentations).<br /><br />The review highlights tactful assessment of consanguinity, noting cultural sensitivity and the value of geographic/ancestry questions. Central to good practice is drawing a standardized pedigree (at least two generations), documenting deaths, miscarriages, and screening status. Pedigrees help infer inheritance patterns (autosomal dominant/recessive, X-linked, mitochondrial), while acknowledging that de novo variants can occur. Finally, clinicians should facilitate structured screening of relatives, verify key information when possible, and periodically update family history over time.

Keywords

chronic kidney disease

family history

inherited kidney disease

genetic testing referral

pedigree construction

autosomal dominant polycystic kidney disease

Alport syndrome

variable expressivity and incomplete penetrance

consanguinity assessment

screening of relatives