Beyond polycystic kidney disease

Santos, Susana Franco; Francisco, Telma; Cordeiro, Ana Isabel; Lopes, Maria João Paiva

doi:10.1136/bcr-2017-220766

Cited by 3 publications

(2 citation statements)

References 18 publications

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“…We report 5 patients with tuberous sclerosis who primarily showed skin or nervous system symptoms, which are frequently thought to be associated with the tuberous sclerosis itself, even if there are bilateral kidney cysts or decreased renal function. Kidney cysts may be found in both TSC and ADPKD, and an estimated 2% to 3% of patients with TSC have a contiguous deletion of the TSC2-PKD1 gene, causing early renal insufficiency (Lim et al, 2014, Dixon et al, 2011, Siroky et al, 2011, Back et al, 2015, Santos et al, 2017. The ADPKD-associated PKD1 gene deletion is easily overlooked.…”

Section: Discussionmentioning

confidence: 99%

Genotype‐phenotype correlation in patients with TSC2-PKD1 contiguous gene deletion syndrome

Shang

Mei

Wang

et al. 2020

Preprint

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PKDTS is a progressive hereditary disease that leads to serious clinical symptoms and death. PKDTS cases are reported less frequently. Therefore, there are few studies on the correlation between genotype and phenotype. Similar studies on whether the missing fragments are concentrated in the thermogene are rare. Given the important value of diagnosing PKDTS, it is necessary to develop a diagnostic process. We firstly reported the clinical date of PKDTS patients in China ,also retrieved the case reports of PKDTS published in the past 22 years and summarized the clinical manifestations and genetic characteristics of these patients. Many PKDTS patients have the following symptoms: under 20 years of age, hemangiofibroma, multiple renal cysts, and mental retardation. We did not have find a relationship between clinical phenotype and genotype. The gene deletion of TSC2 and PKD1 is not a hotspot mutation. More reports with detailed clinical descriptions of PKDTS patients and Chinese patients show phenotypic heterogeneity. The gene deletion of TSC2 and PKD1 expanded the mutation database. Moreover, mTOR inhibitors are recommended for treatment. In addition, combining the advantages of exon sequencing and MLPA, we firstly developed a diagnostic process for the disease, which were helpful in detecting new PKDTS.

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Section: Discussionmentioning

confidence: 99%

Genotype‐phenotype correlation in patients with TSC2-PKD1 contiguous gene deletion syndrome

Shang

Mei

Wang

et al. 2020

Preprint

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“…Clinical characteristics of autosomal dominant and recessive forms of PKD are variable in their penetrance. A range from neonatal death to incidence in old age was reported for PKD (2,4). Disease causing variants in three genes including PKD1 , PKD2, and PKDH1 can cause PKD.…”

Section: Introductionmentioning

confidence: 99%

Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran

et al. 2021

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A Case Report of Tuberous Sclerosis and Autosomal Dominant Polycystic Kidney Disease in the Era of Tolvaptan

Guerra-Torres

2023

CRCEP

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Background: Autosomal dominant polycystic kidney disease (ADPKD) may coexist with other genetic disorders, such as tuberous sclerosis, when deletion in TSC2/PKD1 genes occurs. Recently, the effect of tolvaptan has been explored in ADPKD patients alone, but its safety and efficacy on TSC2/PKD1 contiguous gene syndrome is unknown. Case Presentation: This report describes the case of an asymptomatic patient with TSC2/PKD1 contiguous gene syndrome that fulfills the imaging criteria for initiating the treatment with tolvaptan. After twelve months, the patient did not exhibit severe adverse effects and blood pressure control improved. Conclusion: In this TSC2/PKD1 contiguous gene syndrome single case report, tolvaptan was safe and well-tolerated. More extensive experimental studies are needed to deeply understand the therapeutic implications of vasopressin V2-receptor inhibition in the TSC2/PKD1 contiguous gene syndrome patients.

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Beyond polycystic kidney disease

Cited by 3 publications

References 18 publications

Genotype‐phenotype correlation in patients with TSC2-PKD1 contiguous gene deletion syndrome

Genotype‐phenotype correlation in patients with TSC2-PKD1 contiguous gene deletion syndrome

Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran

A Case Report of Tuberous Sclerosis and Autosomal Dominant Polycystic Kidney Disease in the Era of Tolvaptan

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