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Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis(PKDTS)

MedGen UID:
325000
Concept ID:
C1838327
Disease or Syndrome
Synonyms: CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL; POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; Polycystic kidneys, severe infantile with tuberous sclerosis; Tuberous sclerosis polycystic kidney disease contiguous gene syndrome
SNOMED CT: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (765331004); Tuberous sclerosis, polycystic kidney disease contiguous gene syndrome (765331004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0010856
OMIM®: 600273
Orphanet: ORPHA88924

Definition

Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. [from SNOMEDCT_US]

Clinical features

From HPO
Kidney angiomyolipoma
MedGen UID:
69146
Concept ID:
C0241961
Neoplastic Process
A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Cortical tubers
MedGen UID:
369896
Concept ID:
C1968959
Finding
Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis in Orphanet.

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
Gimpel C, Avni EF, Breysem L, Burgmaier K, Caroli A, Cetiner M, Haffner D, Hartung EA, Franke D, König J, Liebau MC, Mekahli D, Ong ACM, Pape L, Titieni A, Torra R, Winyard PJD, Schaefer F
Radiology 2019 Mar;290(3):769-782. Epub 2019 Jan 1 doi: 10.1148/radiol.2018181243. PMID: 30599104Free PMC Article
Martinez JR, Grantham JJ
Dis Mon 1995 Nov;41(11):693-765. doi: 10.1016/s0011-5029(05)80007-0. PMID: 7587886

Recent clinical studies

Etiology

Gallo-Bernal S, Kilcoyne A, Gee MS, Paul E
Pediatr Nephrol 2023 Oct;38(10):3253-3264. Epub 2022 Nov 29 doi: 10.1007/s00467-022-05820-x. PMID: 36445479
Cramer MT, Guay-Woodford LM
Adv Chronic Kidney Dis 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. PMID: 26088074
Katabathina VS, Kota G, Dasyam AK, Shanbhogue AK, Prasad SR
Radiographics 2010 Oct;30(6):1509-23. doi: 10.1148/rg.306105513. PMID: 21071372
Bonsib SM
Clin J Am Soc Nephrol 2009 Dec;4(12):1998-2007. Epub 2009 Oct 29 doi: 10.2215/CJN.02020309. PMID: 19875768
Thomsen HS, Levine E, Meilstrup JW, Van Slyke MA, Edgar KA, Barth JC, Hartman DS
Eur Radiol 1997;7(8):1267-75. doi: 10.1007/s003300050288. PMID: 9377514

Diagnosis

Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ
Eur J Hum Genet 2021 May;29(5):760-770. Epub 2021 Jan 12 doi: 10.1038/s41431-020-00796-4. PMID: 33437033Free PMC Article
Santos SF, Francisco T, Cordeiro AI, Lopes MJP
BMJ Case Rep 2017 Oct 4;2017 doi: 10.1136/bcr-2017-220766. PMID: 28978585Free PMC Article
Cramer MT, Guay-Woodford LM
Adv Chronic Kidney Dis 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. PMID: 26088074
Thomsen HS, Levine E, Meilstrup JW, Van Slyke MA, Edgar KA, Barth JC, Hartman DS
Eur Radiol 1997;7(8):1267-75. doi: 10.1007/s003300050288. PMID: 9377514
Martinez JR, Grantham JJ
Dis Mon 1995 Nov;41(11):693-765. doi: 10.1016/s0011-5029(05)80007-0. PMID: 7587886

Therapy

Guerra-Torres XE
Curr Rev Clin Exp Pharmacol 2023;18(3):284-290. doi: 10.2174/2772432817666220517162012. PMID: 35585803
Gonda K, Akama T, Nakamura T, Hashimoto E, Kyoya N, Rokkaku Y, Maejima Y, Horita S, Tachibana K, Abe N, Ohtake T, Shimomura K, Kono K, Saji S, Takenoshita S, Higashihara E
J Med Case Rep 2019 Dec 24;13(1):381. doi: 10.1186/s13256-019-2274-6. PMID: 31870441Free PMC Article
Siroky BJ, Towbin AJ, Trout AT, Schäfer H, Thamann AR, Agricola KD, Tudor C, Capal J, Dixon BP, Krueger DA, Franz DN
J Pediatr 2017 Aug;187:318-322.e2. Epub 2017 Jun 7 doi: 10.1016/j.jpeds.2017.05.015. PMID: 28600153
Septer S, Thompson ES, Willemsen-Dunlap A
AANA J 2006 Jun;74(3):219-25. PMID: 16786916
Cole BR, Conley SB, Stapleton FB
J Pediatr 1987 Nov;111(5):693-9. doi: 10.1016/s0022-3476(87)80244-5. PMID: 3668738

Prognosis

Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ
Eur J Hum Genet 2021 May;29(5):760-770. Epub 2021 Jan 12 doi: 10.1038/s41431-020-00796-4. PMID: 33437033Free PMC Article
Katabathina VS, Kota G, Dasyam AK, Shanbhogue AK, Prasad SR
Radiographics 2010 Oct;30(6):1509-23. doi: 10.1148/rg.306105513. PMID: 21071372
Harris PC
Hum Mol Genet 1999;8(10):1861-6. doi: 10.1093/hmg/8.10.1861. PMID: 10469838
Harris PC, Ward CJ, Peral B, Hughes J
J Am Soc Nephrol 1995 Oct;6(4):1125-33. doi: 10.1681/ASN.V641125. PMID: 8589278
Martinez JR, Grantham JJ
Dis Mon 1995 Nov;41(11):693-765. doi: 10.1016/s0011-5029(05)80007-0. PMID: 7587886

Clinical prediction guides

Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ
Eur J Hum Genet 2021 May;29(5):760-770. Epub 2021 Jan 12 doi: 10.1038/s41431-020-00796-4. PMID: 33437033Free PMC Article
Samuel N, Radovanovic I
Neurosurg Focus 2019 Jul 1;47(1):E10. doi: 10.3171/2019.4.FOCUS19204. PMID: 31261114
Cramer MT, Guay-Woodford LM
Adv Chronic Kidney Dis 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. PMID: 26088074
Harris PC
Hum Mol Genet 1999;8(10):1861-6. doi: 10.1093/hmg/8.10.1861. PMID: 10469838
Harris PC, Ward CJ, Peral B, Hughes J
J Am Soc Nephrol 1995 Oct;6(4):1125-33. doi: 10.1681/ASN.V641125. PMID: 8589278

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