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

Pan, Xiaoyu; Yang, Chengqing; S.K., Edmond; Wang, Weihong; Li, Peipei; Guo, Ya; Liu, Yedan; Liu, Longding; Wu, Sifei; Yi, Liping; Wei, Wei; Chen, Zongbo

doi:10.1002/jdn.10088

Cited by 5 publications

(3 citation statements)

References 26 publications

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“…Possible correlation between renal angiomyolipoma, but especially of patients with polycistic renal damages and neurological manifestation represented with epileptic seizures can be the deletions of the TSC2-PKD1 gene, because of close position of those two genes. 14 This study has proven possible correlation between neurological and nephrological symptoms in TSC patients, what can be beneficial also from therapeutic approach.…”

Section: Discussionmentioning

confidence: 65%

Neurological manifestations of tuberous sclerosis are more common in patients with earlier stages than in the end stage of the chronic kidney disease: Multicentric study from South-Eastern Europe countries

Prelević

Juric

Bilić

et al. 2022

Journal of Global Health Neurology and Psychiatry

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Background Tuberous sclerosis is a rare, genetic disease with the various clinical presentations with most frequent clinical presentation which includes epileptic seizures and cognitive disorders. The main cause of mortality in those group of patients is renal impairment., and in some cases, neurological and renal clinical manifestation can be followed, but can also be the main therapeutic aim of mTOR inhibitors. Here, we aimed to correlate neurological symptoms with different stages of chronic kidney disease. Methods This multicentric retrospective study included 51 patients from clinical centres from seven South-Eastern Europe countries We included patients older then 18 years with possible or definitive diagnosis of TSC. Data were collected from nephrological and neurological registries form clinical centres. Results Study enrolled 51 patients with a median age of 32.3 years and predominant female gender. Neurological symptoms represented with epiletic sizures were more common in patients in earlier stages of CKD (nonESRD patients) then in patients in the end-stage renal disease. Conclusion Results of this study have shown that neurological manifestation in analyzed cohort correlate with renal lesions in early stage of chronic kidney disease.

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Section: Discussionmentioning

confidence: 65%

Neurological manifestations of tuberous sclerosis are more common in patients with earlier stages than in the end stage of the chronic kidney disease: Multicentric study from South-Eastern Europe countries

Prelević

Juric

Bilić

et al. 2022

Journal of Global Health Neurology and Psychiatry

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“…The TSC2-PKD1 contiguous deletion syndrome is a rare condition reported for the first time in 1994 [ 37 ]. Since then, ≈70 cases have been reported in the literature [ 38–40 ]. Earlier clinical intervention, facilitated by earlier molecular diagnosis, is likely to improve disease management and outcomes.…”

Section: Discussionmentioning

confidence: 99%

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait

Ali

Naim

Serum

et al. 2022

Clinical Kidney Journal

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Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal monogenic disease and characterized by bilateral accumulation of renal fluid-filled cysts leading to progressive renal volume enlargement and gradual impairment of kidney function which often resulting in ESRD. Kuwait could provide valuable genetic insight about ADPKD including intrafamilial phenotypic variation, given its large household size. This study aims to provide a comprehensive description of the pathogenic variants linked to ADPKD in the Kuwaiti population using multiple genetic analysis modalities and to describe and analyze the ADPKD phenotypic spectrum in term of kidney function, kidney volume and renal survival. Methods 126 ADPKD patients from 11 multiplex families and 25 singletons were recruited in the study. A combination of targeted next generation sequencing (tNGS), long range (LR) -PCR, Sanger sequencing and multiplex-ligation dependent probe amplification (MLPA) were utilized for genetic diagnosis. Clinical evaluation was conducted through Renal Function Test (RFT) and ultrasonographic kidney volume analysis. Results We identified 29 ADPKD pathogenic mutations from 36 families achieving an overall molecular genetic diagnostic rate of 112/126 (88.9%) including 29/36 (80.6%) in families. 28/36 (77.8%) of families had pathogenic mutations in PKD1, of which 17/28 (60.7%) were truncating, and 1/36 (2.8%) had a pathogenic variant in IFT140 gene. 20/29 (69%) of the identified ADPKD mutations were novel and described for the first time including a TSC2-PKD1 contiguous syndrome. Clinical analysis indicated that genetically unresolved ADPKD cases had no apparent association between kidney volume and age. Conclusion We describe for the first time the genetic landscape of ADPKD in Kuwait. The observed genetic heterogeneity underlining ADPKD along with the wide phenotypic spectrum reveals the level of complexity in disease pathophysiology. ADPKD genetic testing could improve care of patients through improving disease prognostication, guided treatment, as well as genetic counseling. However, to fulfill the potential of genetic testing, it is important to overcome the hurdle of genetically unresolved ADPKD cases.

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“…A recent multicenter study from Belgium including both pediatric and adult patients reported that 23% (8/35) of patients with TSC < 18 years old had hypertension [12]. A few other reports have highlighted the correlation between TSC-associated renal disease and hypertension in the paediatric age group; the majority of which are TSC2-PKD1 contiguous gene syndrome cases [33][34][35][36][37]. In those patients, hypertension is often discovered in infancy and the renal function decline is rapid.…”

Section: Discussionmentioning

confidence: 99%

Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex

et al. 2022

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BackgroundRenal involvement is very common in tuberous sclerosis complex (TSC) and is characterised by the development of angiomyolipoma and cysts. The aims of the present study were to assess kidney function and clinical features of renal involvement in TSC, including kidney function, and blood pressure (BP) levels in children, adolescents and young adults. MethodsNon-selected patients with a de nite diagnosis of TSC attending the paediatric neurology outpatient department of a tertiary hospital were included in a cross-sectional study. All participants had a renal imaging study within 6 months of ambulatory blood pressure (BP) and glomerular ltration rate (GFR) assessment. Data on demographics, history, genotype, kidney function at diagnosis and last imaging were collected. ResultsThe median age of the patients was 15 years (IQR range 9 to18). 23.5% of the participants had ambulatory BP hypertension. Systolic BP levels correlated signi cantly with GFR DTPA values despite the absence of hyper ltration. Greater increase in GFR from initial TSC diagnosis till the age of the assessment, resulted in higher GFR levels in childhood and adolescence in those that developed hypertension and possibly in those with angiomyolipoma or cysts. All patients with ambulatory BP hypertension had angiomyolipomas or cysts on renal imaging studies. ConclusionsHypertension may present with increased frequency in young patients with kidney disease associated with TSC. Routine ambulatory BP measurement could be part of the annual clinical assessment in patients with TSC. What Is KnownNearly half of the patients with TSC have a premature decline in their renal function in their fth decade of life Hypertension and hyper ltration have been proposed as modi able factors of progression of renal decline

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

Cited by 5 publications

References 26 publications

Neurological manifestations of tuberous sclerosis are more common in patients with earlier stages than in the end stage of the chronic kidney disease: Multicentric study from South-Eastern Europe countries

Neurological manifestations of tuberous sclerosis are more common in patients with earlier stages than in the end stage of the chronic kidney disease: Multicentric study from South-Eastern Europe countries

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait

Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex

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