Evidence for inheritance of medullary sponge kidney | Zendy

David S. Goldfarb | Zendy

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Evidence for inheritance of medullary sponge kidney

Author(s) -

David S. Goldfarb

Publication year - 2013

Publication title -

kidney international

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.499

H-Index - 276

eISSN - 1523-1755

pISSN - 0085-2538

DOI - 10.1038/ki.2012.417

Subject(s) - glial cell line derived neurotrophic factor , medullary cavity , medicine , proband , kidney , pathology , neurotrophic factors , oncology , biology , mutation , genetics , receptor , gene

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.

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