Evidence for inheritance of medullary sponge kidney.
Medullary sponge kidney (MSK) is associated with recurrent calcium stones. Gambaro's group evaluated the relatives of probands with MSK. When prior imaging was not available, they performed renal ultrasounds. They demonstrated familial clustering, providing the best evidence yet that MSK is a heritable disorder. Although a small proportion of MSK cases are associated with variants of glial cell-derived neurotrophic factor (GDNF), the genetic basis for most instances of MSK is not known.
Nephrology 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
David S
DS
Goldfarb
D005260:Female; D006801:Humans; D008297:Male; D007691:Medullary Sponge Kidney / Q000235:genetics*; D019683:Penetrance