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Multiple renal cysts

MedGen UID:
140917
Concept ID:
C0431718
Disease or Syndrome
Synonym: Multiple kidney cysts
SNOMED CT: Multiple renal cysts (253883006)
 
HPO: HP:0005562

Definition

The presence of many cysts in the kidney. [from HPO]

Term Hierarchy

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Polycystic kidney disease 2
MedGen UID:
442699
Concept ID:
C2751306
Disease or Syndrome
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.
Peroxisome biogenesis disorder 11A (Zellweger)
MedGen UID:
766914
Concept ID:
C3554000
Disease or Syndrome
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see 214100.
Neuromuscular disease and ocular or auditory anomalies with or without seizures
MedGen UID:
1684689
Concept ID:
C5231483
Disease or Syndrome
Polycystic kidney disease 7
MedGen UID:
1823995
Concept ID:
C5774222
Disease or Syndrome
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.

Professional guidelines

PubMed

Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q
Clin Nephrol 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. PMID: 35142283
Bai D, Zhao J, Li L, Gao J, Wang X
Sci China Life Sci 2017 Jul;60(7):763-771. Epub 2017 Jun 14 doi: 10.1007/s11427-017-9091-x. PMID: 28623545
Rizzo N, Gabrielli S, Pilu G, Perolo A, Cacciari A, Domini R, Bovicelli L
Prenat Diagn 1987 Feb;7(2):109-18. doi: 10.1002/pd.1970070207. PMID: 3554210

Recent clinical studies

Etiology

Prelevic V, Juric I, Bevc S, Marcun-Varda N, Aleckovic-Halilovic M, Mesic E, Bilic H, Grujicic M, Zabic I, Josipovic J, Vujicic B, Marinaki S, Simic-Ogrizovic S, Milinkovic M, Azasevac T, Idrizi A, Arnol M, Radunovic D, Antunovic T, Jukic NB
Int Urol Nephrol 2023 Feb;55(2):477-482. Epub 2022 Aug 28 doi: 10.1007/s11255-022-03352-9. PMID: 36030358
Bai D, Zhao J, Li L, Gao J, Wang X
Sci China Life Sci 2017 Jul;60(7):763-771. Epub 2017 Jun 14 doi: 10.1007/s11427-017-9091-x. PMID: 28623545
Al-Rabadi K, Almardini RI, Hajeer M, Hendawi M, Hadad A
Exp Clin Transplant 2017 Feb;15(Suppl 1):116-120. doi: 10.6002/ect.mesot2016.O114. PMID: 28260449
Chen YB, Tickoo SK
Arch Pathol Lab Med 2012 Apr;136(4):400-9. doi: 10.5858/arpa.2011-0485-RA. PMID: 22458902
Corbetta S, Eller-Vainicher C, Vicentini L, Carnicelli S, Sardanelli F, Beck-Peccoz P, Spada A
J Endocrinol Invest 2009 Sep;32(8):690-4. Epub 2009 May 26 doi: 10.1007/BF03345742. PMID: 19516087

Diagnosis

Prelevic V, Juric I, Bevc S, Marcun-Varda N, Aleckovic-Halilovic M, Mesic E, Bilic H, Grujicic M, Zabic I, Josipovic J, Vujicic B, Marinaki S, Simic-Ogrizovic S, Milinkovic M, Azasevac T, Idrizi A, Arnol M, Radunovic D, Antunovic T, Jukic NB
Int Urol Nephrol 2023 Feb;55(2):477-482. Epub 2022 Aug 28 doi: 10.1007/s11255-022-03352-9. PMID: 36030358
Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q
Clin Nephrol 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. PMID: 35142283
Simms RJ, Ong AC
Nephrol Dial Transplant 2014 Sep;29 Suppl 4(Suppl 4):iv106-12. doi: 10.1093/ndt/gfu106. PMID: 25165175Free PMC Article
Mufti UB, Nalagatla SK
J Endourol 2010 Oct;24(10):1557-61. doi: 10.1089/end.2010.0093. PMID: 20818989
Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K
Radiographics 2008 Nov-Dec;28(7):e32. Epub 2008 Sep 4 doi: 10.1148/rg.e32. PMID: 18772274

Therapy

Miyagi S, Kashiwadate T, Nishimaki H, Tokodai K, Fujio A, Miyazawa K, Sasaki K, Matsumura M, Unno M, Kamei T, Matsuno N
Transplant Proc 2022 Mar;54(2):225-229. Epub 2022 Jan 11 doi: 10.1016/j.transproceed.2021.09.075. PMID: 35031116
Tao T, Yang Y, Hu Z
Medicine (Baltimore) 2020 Jul 31;99(31):e21438. doi: 10.1097/MD.0000000000021438. PMID: 32756155Free PMC Article
Lai S, Xu X, Diao T, Jiao B, Jiang Z, Zhang G
Medicine (Baltimore) 2017 Oct;96(41):e8259. doi: 10.1097/MD.0000000000008259. PMID: 29019896Free PMC Article
Al-Rabadi K, Almardini RI, Hajeer M, Hendawi M, Hadad A
Exp Clin Transplant 2017 Feb;15(Suppl 1):116-120. doi: 10.6002/ect.mesot2016.O114. PMID: 28260449
Chung-Park M, Ricanati E, Lankerani M, Kedia K
Am J Clin Pathol 1983 Feb;79(2):238-42. doi: 10.1093/ajcp/79.2.238. PMID: 6823908

Prognosis

Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q
Clin Nephrol 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. PMID: 35142283
Al-Rabadi K, Almardini RI, Hajeer M, Hendawi M, Hadad A
Exp Clin Transplant 2017 Feb;15(Suppl 1):116-120. doi: 10.6002/ect.mesot2016.O114. PMID: 28260449
Chen YB, Tickoo SK
Arch Pathol Lab Med 2012 Apr;136(4):400-9. doi: 10.5858/arpa.2011-0485-RA. PMID: 22458902
Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K
Radiographics 2008 Nov-Dec;28(7):e32. Epub 2008 Sep 4 doi: 10.1148/rg.e32. PMID: 18772274
Sato T, Seyama K, Kumasaka T, Fujii H, Setoguchi Y, Shirai T, Tomino Y, Hino O, Fukuchi Y
J Intern Med 2004 Aug;256(2):166-73. doi: 10.1111/j.1365-2796.2004.01356.x. PMID: 15257730

Clinical prediction guides

Ren Y, Zhu X, Fu K, Zhang H, Zhao W, Lin Y, Fang Q, Wang J, Chen Y, Guo D
Biochem Pharmacol 2023 Jan;207:115355. Epub 2022 Nov 25 doi: 10.1016/j.bcp.2022.115355. PMID: 36442624
Bai D, Zhao J, Li L, Gao J, Wang X
Sci China Life Sci 2017 Jul;60(7):763-771. Epub 2017 Jun 14 doi: 10.1007/s11427-017-9091-x. PMID: 28623545
Al-Rabadi K, Almardini RI, Hajeer M, Hendawi M, Hadad A
Exp Clin Transplant 2017 Feb;15(Suppl 1):116-120. doi: 10.6002/ect.mesot2016.O114. PMID: 28260449
Chen YB, Tickoo SK
Arch Pathol Lab Med 2012 Apr;136(4):400-9. doi: 10.5858/arpa.2011-0485-RA. PMID: 22458902
Corbetta S, Eller-Vainicher C, Vicentini L, Carnicelli S, Sardanelli F, Beck-Peccoz P, Spada A
J Endocrinol Invest 2009 Sep;32(8):690-4. Epub 2009 May 26 doi: 10.1007/BF03345742. PMID: 19516087

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