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*In 1994, PKD-1 gene mutation on chromosome 16, was first implicated in the pathogenesis of ADPKD patients<ref name="pmid7736581">{{cite journal |vauthors= |title=Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium |journal=Cell |volume=81 |issue=2 |pages=289–98 |date=April 1995 |pmid=7736581 |doi= |url=}}</ref> | *In 1994, PKD-1 gene mutation on chromosome 16, was first implicated in the pathogenesis of ADPKD patients<ref name="pmid7736581">{{cite journal |vauthors= |title=Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium |journal=Cell |volume=81 |issue=2 |pages=289–98 |date=April 1995 |pmid=7736581 |doi= |url=}}</ref> | ||
*Later PKHD1 gene mutation was found in patients with ARPKD<ref name="pmid11898128">{{cite journal |vauthors=Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG |title=PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats |journal=Am. J. Hum. Genet. |volume=70 |issue=5 |pages=1305–17 |date=May 2002 |pmid=11898128 |pmc=447605 |doi=10.1086/340448 |url=}}</ref> | *Later PKHD1 gene mutation was found in patients with ARPKD<ref name="pmid11898128">{{cite journal |vauthors=Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG |title=PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats |journal=Am. J. Hum. Genet. |volume=70 |issue=5 |pages=1305–17 |date=May 2002 |pmid=11898128 |pmc=447605 |doi=10.1086/340448 |url=}}</ref> | ||
==Famous Cases== | ==Famous Cases== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2]
Overview
Historical Perspective
Discovery
- In 1888, Fe´lix Lejars first used the term polycystic kidney[1]
- He also stressed on the fact these cysts are bilateral
- In the late 18th century, Dr. Matthew Baillie noted that these cysts were vesicular and not hydatid, and named them false hydatids of kidney[2]
- In 1994, PKD-1 gene mutation on chromosome 16, was first implicated in the pathogenesis of ADPKD patients[3]
- Later PKHD1 gene mutation was found in patients with ARPKD[4]
Famous Cases
The following are a few famous cases of Polycystic kidney disease:
- King Stephen Bathory of Poland died from polycystic kidney disease in 1586[5]
- His death began the journey of the discovery of polycystic kidney disease as a disease process.
References
- ↑ Balat A (February 2016). "Tear drops of kidney: a historical overview of Polycystic Kidney Disease". G Ital Nefrol. 33 Suppl 66: 33.S66.21. PMID 26913889.
- ↑ BAILLIE, MATTHEW (2018). MORBID ANATOMY OF SOME OF THE MOST IMPORTANT PARTS OF THE HUMAN BODY. BY MATTHEW BAILLIE, ... THE... SECOND EDITION, CORRECTED AND CONSIDERABLY ENLARGE. S.l: GALE ECCO, PRINT EDITIONS. ISBN 1385243856.
- ↑ "Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium". Cell. 81 (2): 289–98. April 1995. PMID 7736581.
- ↑ Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG (May 2002). "PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats". Am. J. Hum. Genet. 70 (5): 1305–17. doi:10.1086/340448. PMC 447605. PMID 11898128.
- ↑ Torres VE, Watson ML (October 1998). "Polycystic kidney disease: antiquity to the 20th century". Nephrol. Dial. Transplant. 13 (10): 2690–6. PMID 9794593.