U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
Autosomal dominant inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Polycystic kidney disease
MedGen UID:
9639
•Concept ID:
C0022680
•
Disease or Syndrome
The presence of multiple cysts in both kidneys.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Show allHide all

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

Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
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
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.
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
Polycystic kidney disease: etiology, pathogenesis, and treatment.
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

Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions.
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
Genetic basis of intracranial aneurysm formation and rupture: clinical implications in the postgenomic era.
Samuel N, Radovanovic I
Neurosurg Focus 2019 Jul 1;47(1):E10. doi: 10.3171/2019.4.FOCUS19204. PMID: 31261114
Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.
Robert A, Leroy V, Riquet A, Gogneaux L, Boutry N, Avni FE
Radiol Med 2016 May;121(5):402-8. Epub 2015 Jul 29 doi: 10.1007/s11547-015-0572-7. PMID: 26219723
Cystic kidney disease: a primer.
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
Renal cystic diseases.
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

Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
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
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
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
Beyond polycystic kidney disease.
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
Cystic kidney disease: a primer.
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
Renal cystic diseases.
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

Therapy

A Case Report of Tuberous Sclerosis and Autosomal Dominant Polycystic Kidney Disease in the Era of Tolvaptan.
Guerra-Torres XE
Curr Rev Clin Exp Pharmacol 2023;18(3):284-290. doi: 10.2174/2772432817666220517162012. PMID: 35585803
Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report.
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
Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.
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
Anesthesia concerns for children with tuberous sclerosis.
Septer S, Thompson ES, Willemsen-Dunlap A
AANA J 2006 Jun;74(3):219-25. PMID: 16786916
Polycystic kidney disease in the first year of life.
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

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
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
Genetic basis of intracranial aneurysm formation and rupture: clinical implications in the postgenomic era.
Samuel N, Radovanovic I
Neurosurg Focus 2019 Jul 1;47(1):E10. doi: 10.3171/2019.4.FOCUS19204. PMID: 31261114
Autosomal dominant polycystic kidney disease: clues to pathogenesis.
Harris PC
Hum Mol Genet 1999;8(10):1861-6. doi: 10.1093/hmg/8.10.1861. PMID: 10469838
Polycystic kidney disease. 1: Identification and analysis of the primary defect.
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
Polycystic kidney disease: etiology, pathogenesis, and treatment.
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

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
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
Genetic basis of intracranial aneurysm formation and rupture: clinical implications in the postgenomic era.
Samuel N, Radovanovic I
Neurosurg Focus 2019 Jul 1;47(1):E10. doi: 10.3171/2019.4.FOCUS19204. PMID: 31261114
Cystic kidney disease: a primer.
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
Autosomal dominant polycystic kidney disease: clues to pathogenesis.
Harris PC
Hum Mol Genet 1999;8(10):1861-6. doi: 10.1093/hmg/8.10.1861. PMID: 10469838
Polycystic kidney disease. 1: Identification and analysis of the primary defect.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...