Tuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease

Lai, Jonathan; Modi, Lopa; Ramai, Daryl; Tortora, Matthew

doi:10.1016/j.prp.2016.12.027

Cited by 5 publications

(3 citation statements)

References 20 publications

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“…After reviewing the literature, we found that the clinical manifestation of PKDTS is roughly the superposition of TSC and PKD symptoms, excepting the renal manifestations of the disease. Dauwerse et al reported a TSC2/PKD1 patient with acrofacial dysostosis (Dauwerse et al., 2002), while Lai reported a patient with Moyamoya disease (Lai et al., 2017). Here, we report a patient with early onset seizures, renal cysts, hypertension, and hematuria.…”

Section: Discussionmentioning

confidence: 99%

A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy

Pan

Yang

S.K.

et al. 2021

Intl J of Devlp Neuroscience

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Polycystic kidney disease with Tuberous sclerosis is a disease caused by the deletions of the TSC2‐PKD1 gene. The disease is rarely reported and the characterized manifestation is severe polycystic kidney growth. The diagnosis can be made by molecular analysis. We report the first case of PKDTS discovered in infancy in China with typical neurological and renal manifestations. The patient has infantile spasm, polycystic kidney, skin damage, hypertension, and hematuria after infection. After effective treatment of Rapamycin, the seizures were completely controlled. There was not been any renal function damage in the patient. At the same time, we review the related literature and further elaborate on the variety of clinical manifestations, treatment, and prognosis.

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Section: Discussionmentioning

confidence: 99%

A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy

Pan

Yang

S.K.

et al. 2021

Intl J of Devlp Neuroscience

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“…We found 12 (11%) papers describing an association between moyamoya and Neurocutaneous disorders, including one case of tuberous sclerosis [35] and the rest of neurofibromatosis type 1 (NF1) [24][25][26][27][28][29][30][31][32][33][34]. One study found approximately 250 children with NF1 in the literature since 1976 [12], and another NIS study found 51 of 2,247 moyamoya patients with NF between 1988 and 2004 [17].…”

Section: Disease Associationsmentioning

confidence: 99%

Western Moyamoya Phenotype: A Scoping Review

Miller¹,

Unda²,

Holland³

et al. 2021

Cureus

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Moyamoya, a rare angiographic finding, is characterized by chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Coined by Suzuki and Takaku in 1969, the term “moyamoya” means a “puff of smoke” in Japanese, a reference to the angiographic appearance of moyamoya collateralization. Moyamoya is most commonly found in East Asian countries, where much governmental and civilian effort has been expended to characterize this unique disease process. However, despite its rarity, the occurrence of moyamoya in Western countries is associated with significant divergence regarding incidence, gender, sex, age at diagnosis, clinical presentation, and outcomes. Here, we attempted to review the Western literature on moyamoya presentation using the PubMed database to characterize the Western phenotype of moyamoya. We were guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR). We reviewed papers generated from a search with keywords “moyamoya case report,” those reported from a Western institution, and those reported on a relevant association. Our scoping review demonstrated various clinical associations with moyamoya. Moreover, we summarized the demographic profile and clinical symptomatology, as well as reported disease associations to better elucidate the Western phenotype of moyamoya.

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“…Although many scientists endeavor to study the mechanism of the ADPKD from the bioinformatics perspective [31][32][33], the development of the ADPKD is not very clear today. It is usually considered to be inherited from the parents, and affected by other factors such as toxin and infection.…”

Section: Figure3 Rscu Of the Pkd1 Coding Genementioning

confidence: 99%

Codon Usage of Autosomal Dominant Polycystic Kidney Disease Genes PKD1 and PKD2

2017

ARC Journal of Urology

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Tuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease

Cited by 5 publications

References 20 publications

A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy

A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy

Western Moyamoya Phenotype: A Scoping Review

Codon Usage of Autosomal Dominant Polycystic Kidney Disease Genes PKD1 and PKD2

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