Polycystic Kidney, Autosomal Recessive
"Polycystic Kidney, Autosomal Recessive" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.
MeSH Number(s)
C12.777.419.403.875.510
C13.351.968.419.403.875.510
C16.320.793
Concept/Terms
Polycystic Kidney, Autosomal Recessive- Polycystic Kidney, Autosomal Recessive
- Autosomal Recessive Polycystic Kidney
- Autosomal Recessive Polycystic Kidney Disease
- Polycystic Kidney Disease, Infantile, Type I
- Polycystic Kidney and Hepatic Disease 1
- Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)
- Polycystic Kidney Disease, Autosomal Recessive
- Polycystic Kidney Disease, Infantile, Type 1
- ARPKD
- Kidney, Polycystic, Autosomal Recessive
Below are MeSH descriptors whose meaning is more general than "Polycystic Kidney, Autosomal Recessive".
Below are MeSH descriptors whose meaning is more specific than "Polycystic Kidney, Autosomal Recessive".
This graph shows the total number of publications written about "Polycystic Kidney, Autosomal Recessive" by people in Harvard Catalyst Profiles by year, and whether "Polycystic Kidney, Autosomal Recessive" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 0 | 1 | 1 |
| 1999 | 1 | 0 | 1 |
| 2000 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2003 | 0 | 2 | 2 |
| 2004 | 1 | 0 | 1 |
| 2005 | 2 | 0 | 2 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 1 | 1 | 2 |
| 2014 | 2 | 0 | 2 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
| 2022 | 1 | 0 | 1 |
Below are the most recent publications written about "Polycystic Kidney, Autosomal Recessive" by people in Profiles.
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Organoid-on-a-chip model of human ARPKD reveals mechanosensing pathomechanisms for drug discovery. Sci Adv. 2022 09 23; 8(38):eabq0866.
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Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. Clin Exp Nephrol. 2022 Feb; 26(2):140-153.
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Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Sci Rep. 2021 09 14; 11(1):18274.
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Renal cyst evolution in childhood: a contemporary observational study. J Pediatr Urol. 2019 Apr; 15(2):188.e1-188.e6.
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Blockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat. Am J Pathol. 2018 10; 188(10):2251-2263.
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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017 Jul; 49(7):1025-1034.
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Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. Pediatr Nephrol. 2015 Sep; 30(9):1451-8.
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Autosomal recessive polycystic kidney disease with Caroli syndrome. J Urol. 2015 Feb; 193(2):679-80.
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Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 2014 Sep; 165(3):611-7.
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The cytoplasmic tail of FPC antagonizes the full-length protein in the regulation of mTOR pathway. PLoS One. 2014; 9(5):e95630.