Polycystic kidney disease historical perspective
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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
King Stephen Bathory of Poland died from polycystic kidney disease in 1586. His death began the journey of the discovery of polycystic kidney disease as a disease process. In 1888, Fe´lix Lejars first used the term polycystic kidney. In the late 18th century, Dr. Matthew Baillie noted that these cysts were vesicular and not hydatid, and named them false hydatids of kidney. In 1994, PKD1 gene mutation on chromosome 16, was first implicated in the pathogenesis of ADPKD patients.
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, PKD1 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.