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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.
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
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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
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
Inherited cystic diseases of the kidney.
Choyke PL
Radiol Clin North Am 1996 Sep;34(5):925-46. PMID: 8784390

Diagnosis

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
Congenital/inherited kidney diseases: how to identify them early and how to manage them.
Grünfeld JP
Clin Exp Nephrol 2005 Sep;9(3):192-4. doi: 10.1007/s10157-005-0352-0. PMID: 16189626
Cystic and inherited kidney diseases.
Rizk D, Chapman AB
Am J Kidney Dis 2003 Dec;42(6):1305-17. doi: 10.1053/j.ajkd.2003.10.002. PMID: 14655206
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
Inherited cystic diseases of the kidney.
Choyke PL
Radiol Clin North Am 1996 Sep;34(5):925-46. PMID: 8784390

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
Tuberous sclerosis presenting with acute kidney failure, pyelonephritis, and polycystic kidney disease.
Mohkam M, Shohadaii S, Kompani F, Aghadoost HR, Hojati SA, Esfandiar N
Iran J Kidney Dis 2014 Jul;8(4):336-40. PMID: 25001142
Anesthesia concerns for children with tuberous sclerosis.
Septer S, Thompson ES, Willemsen-Dunlap A
AANA J 2006 Jun;74(3):219-25. PMID: 16786916

Prognosis

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
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

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