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Evidence for inheritance of medullary sponge kidney

David S Goldfarb1

  • 1Nephrology Division, New York University Langone Medical Center, Nephrology Section, Veterans Affairs New York Harbor Healthcare System, New York, New York 10010, USA. david.goldfarb@va.gov

Kidney International
|February 1, 2013
PubMed

Insights

Medullary sponge kidney (MSK) is a heritable disorder, evidenced by familial clustering in affected individuals. Further research is needed to identify the genetic causes of most MSK cases.

Area of Science:

  • Nephrology
  • Medical Genetics

Background:

  • Medullary sponge kidney (MSK) is a congenital renal abnormality.
  • MSK is frequently associated with recurrent calcium nephrolithiasis.

Purpose of the Study:

  • To investigate the heritability of Medullary sponge kidney.
  • To explore the familial aggregation of MSK.

Main Methods:

  • Evaluation of relatives of patients with confirmed MSK.
  • Renal ultrasound imaging for individuals lacking prior imaging data.

Main Results:

  • Demonstrated significant familial clustering of MSK.
  • Provided strong evidence supporting MSK as an inherited condition.
  • Acknowledged a small subset of MSK cases linked to GDNF variants.

Conclusions:

  • Medullary sponge kidney exhibits strong heritability.
  • The genetic underpinnings for the majority of MSK cases remain unidentified.

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