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

Guerra-Torres, Xavier E

doi:10.2174/2772432817666220517162012

Cited by 2 publications

(3 citation statements)

References 25 publications

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“…There have also been no concerns about medication adherence. In contrast, genetic evaluation in the case reported by Guerra Torres et al identi ed a deletion in exons 35-37 of the PKD1 gene and exon 41 of the TSC2 gene [5]. Our case was characterised by a much larger deletion involving the whole of the PKD1 gene.…”

Section: Discussioncontrasting

confidence: 77%

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Tolvaptan use in a patient with TSC2 - PKD1 contiguous gene deletion syndrome – a case report

Iyasere,

Jinadu,

Craft

2024

Preprint

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The TSC2 gene is contiguous to the PKD1 gene on chromosome 16. A large deletion in this region is associated with a clinical phenotype involving features of tuberous sclerosis and polycystic kidney disease (TSC-PKD CGD). While Tolvaptan use in patients with autosomal dominant polycystic kidney disease is well established, it is less so in those TSC-PKD CGD syndrome. Here, we report a case of Tolvaptan use in a 23 year old woman diagnosed with TSC - PKD CGD using micro-array testing. She had a known diagnosis of tuberous sclerosis, but renal imaging had shown enlarged polycystic kidneys and no angiomyolipomas. Following a rapid decline in kidney function, micro-array testing was arranged, which confirmed a large deletion involving the TSC2 and PKD 1 genes respectively. She was subsequently commenced on Tolvaptan therapy, which has been well tolerated, without significant side effects. After 12 months of therapy, the rate of decline in kidney function is slower in comparison to the pre-Tolvaptan phase.

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Section: Discussioncontrasting

confidence: 77%

“…It is approved for use in those with progressive disease. However, evidence of use in those with TSC2-PKD1 CGD is limited, with one published case report [5]. We report a case of Tolvaptan use in a young woman diagnosed with TSC -PKD CGD.…”

Section: Introductionmentioning

confidence: 89%

Tolvaptan use in a patient with TSC2 - PKD1 contiguous gene deletion syndrome – a case report

Iyasere,

Jinadu,

Craft

2024

Preprint

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“…Despite previous ineffectiveness in major depression [233], V 1b receptor antagonists might be effective in subpopulations [368,369] and are therefore still under development (e.g., THY1773 [370], TS-121 [371], ABT-436 [372]). We cannot ignore V 2 receptors either, as Tolvaptan, a V 2 antagonist was implicated in the treatment of tuberous sclerosis, a genetic ASD, in a case report [134] (Table 2).…”

Section: Vasopressin Antagonist Treatmentmentioning

confidence: 99%

Vasopressin as Possible Treatment Option in Autism Spectrum Disorder

László,

Vörös,

Correia

et al. 2023

Biomedicines

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Autism spectrum disorder (ASD) is rather common, presenting with prevalent early problems in social communication and accompanied by repetitive behavior. As vasopressin was implicated not only in salt-water homeostasis and stress-axis regulation, but also in social behavior, its role in the development of ASD might be suggested. In this review, we summarized a wide range of problems associated with ASD to which vasopressin might contribute, from social skills to communication, motor function problems, autonomous nervous system alterations as well as sleep disturbances, and altered sensory information processing. Beside functional connections between vasopressin and ASD, we draw attention to the anatomical background, highlighting several brain areas, including the paraventricular nucleus of the hypothalamus, medial preoptic area, lateral septum, bed nucleus of stria terminalis, amygdala, hippocampus, olfactory bulb and even the cerebellum, either producing vasopressin or containing vasopressinergic receptors (presumably V1a). Sex differences in the vasopressinergic system might underline the male prevalence of ASD. Moreover, vasopressin might contribute to the effectiveness of available off-label therapies as well as serve as a possible target for intervention. In this sense, vasopressin, but paradoxically also V1a receptor antagonist, were found to be effective in some clinical trials. We concluded that although vasopressin might be an effective candidate for ASD treatment, we might assume that only a subgroup (e.g., with stress-axis disturbances), a certain sex (most probably males) and a certain brain area (targeting by means of virus vectors) would benefit from this therapy.

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

Cited by 2 publications

References 25 publications

Tolvaptan use in a patient with TSC2 - PKD1 contiguous gene deletion syndrome – a case report

Tolvaptan use in a patient with TSC2 - PKD1 contiguous gene deletion syndrome – a case report

Vasopressin as Possible Treatment Option in Autism Spectrum Disorder

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