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Update on the Genetics of Kidney Disease

Update on the Genetics of Kidney Disease. Kenneth V. Lieberman, MD Chief, Division of Pediatric Nephrology The Joseph M. Sanzari Children’s Hospital Hackensack University Medical Center Professor of Pediatrics UMDNJ – New Jersey Medical School. Goals. Educate Enlighten Energize Empower

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Update on the Genetics of Kidney Disease

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  1. Update on the Genetics of Kidney Disease Kenneth V. Lieberman, MD Chief, Division of Pediatric Nephrology The Joseph M. Sanzari Children’s Hospital Hackensack University Medical Center Professor of Pediatrics UMDNJ – New Jersey Medical School

  2. Goals • Educate • Enlighten • Energize • Empower • Entertain

  3. Genetics Practice • Traditional • Inheritance patterns • Syndrome recognition • Modern • Mutation finding • Ameliorating therapy • Diagnostic tools – substrate testing, genetic testing • Future • Gene therapy • Human genome project

  4. Central Dogma

  5. Autosomal Dominant

  6. Autosomal Recessive

  7. X-Linked

  8. Lyonization

  9. Family history • The lack of a history is not a negative history • Consanguinity – autosomal recessive • Maternal uncles – X-linked • Children – presence, state of health • Update • Update • Update

  10. Questions for patient • Health problems other than ESRD and its related complications • Diseases in the family, outside of the usual (i.e., MI, strokes, DM, HTN) – map out • Update • Update • Update

  11. KDW • Survey data: ESRD of unknown etiology • 10-30% • Glomerulosclerosis – “scarred” • Hypoplasia/dysplasia – “small” • Inadequate/incomplete diagnosis • glomerulonephritis • hypertension

  12. Importance • Patient’s own care • Piece of mind • Missing other disease manifestation • Transplant recurrence • Treatment • Finding pre-symptomatic relatives (kids) • Prophylactic treatment • Counseling of young couples • Prenatal diagnosis • Carrier detection

  13. Genetic testing • Diagnostic testing • Predictive testing • Prognostic testing • Carrier testing • Preimplantation testing • Prenatal testing • Newborn screening

  14. Examples (1) • Medullary Cystic Kidney Disease (UMOD) • Autosomal dominant – high transmission risk • Gout • FSGS • Might be autosomal recessive • High transplant recurrence risk • Alport • Mostly X-linked • Mothers (female carriers are variably symptomatic, mostly minimal)

  15. Examples (2) • Fabry’s Disease • X-linked • Specific treatment available • Transplant implications (extra benefit) • Atypical Hemolytic-Uremic Syndrome • Different inheritance patterns • Transplant implications (liver as well as kidney)

  16. Examples (3) • Polycystic Kidney Disease • Distinguish AR from AD (other organ involvement) • Early detection – treatment available • Distinguish from Von Hippel-Lindau • Nephrogenic Diabetes Insipidus • X-linked • Early detection • Dehydration risk

  17. Put the nephrologist on the spot • Did you consider… • I found out that… • Do you want to consider a referral to… • Do you want to consider genetic testing?

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