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| CASE REPORT |
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| Year : 2018 |
Volume
: 29 | Issue : 6 | Page
: 1475-1479 |
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Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome
Urmila Anandh1, Gayatri Chandrasekar2, Vikas Agarwal3
1 Department of Nephrology, Yashoda Hospitals, Secunderabad, Telangana, India
2 Department of Radiology, Yashoda Hospitals, Secunderabad, Telangana, India
3 Department of Neurology, Yashoda Hospitals, Secunderabad, Telangana, India
Correspondence Address:
Dr. Urmila Anandh
Department of Nephrology, Yashoda Hospitals, Secunderabad -500 003, Telangana
India
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DOI: 10.4103/1319-2442.248317 PMID: 30588981 
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The mutations associated with polycystic kidney disease are closely aligned with that of tuberous sclerosis (TSC) in chromosome 16. Occasionally, the presence of these mutations in an individual can lead to a presence of a disease phenotype with a combination of polycystic kidney disease and TSC (contiguous gene syndrome). We present a case report of a young girl who presented with skin lesions, central nervous system tubers, and cystic disease of the kidneys. She was treated with mammalian target of rapamycin inhibitors with a favorable outcome. |
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