Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

Furlano, Mónica; Barreiro, Yaima; Martí, T; Facundo, Carme; Ruiz-García, César; daSilva, Iara; Ayasreh, Nadia; Cabrera-López, Cristina; Ballarín, José; Ars, Elisabet; Torra, Roser

doi:10.1016/j.nefroe.2017.01.015

Cited by 9 publications

(4 citation statements)

References 23 publications

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“…First, the frequency of epileptic seizures was reduced by mTOR inhibitors in patients in our study after receiving mTOR inhibitors and other antiepileptic drugs. Furlano M et al also had similar research reports (Furlano et al, 2017). Second, mTOR inhibitors have been approved as a first-line therapy for AMLs in TSC (Furlano et al, 2017, Bissler et al, 2016.…”

Section: Discussionmentioning

confidence: 84%

“…Second, mTOR inhibitors have been approved as a first-line therapy for AMLs in TSC (Furlano et al, 2017, Bissler et al, 2016. Simultaneously, these drugs have shown some efficacy in reducing the progressive increase in kidney volume of ADPKD (Serra et al, 2010, Walz et al, 2010 .Third, PKDTS patients could have benefited from the administration of mTOR inhibitors at renal transplantation, lowering the risk of AMLs complications (Furlano et al, 2017, Bissler et al, 2008.…”

Section: Discussionmentioning

confidence: 99%

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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: 84%

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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“…Gene abnormalities have been identified in the pathology of both TSC and CA such as TSC1 TSC2 genes in the TSC [5], and CCM1, CCM2, and CCM3 genes in a CA [6]. However, to the best of our knowledge, no reports of concomitant TSC and CA have been published, and thus the diagnosis of this patient could not be based on a combination of gene abnormalities [7] or the concomitant occurrence of these conditions. In other words, we cannot be sure whether the concomitant TSC and CA happened by chance or via combined genetic abnormalities.…”

Section: Discussionmentioning

confidence: 86%

Removal of a temporal lobe cavernous angioma to control epileptic seizures in a patient with tuberous sclerosis complex

Sakakura

Fujimoto

Ichikawa

et al. 2020

Heliyon

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A patient with tuberous sclerosis complex (TSC) and a left temporal cavernous angioma (CA) presented with treatment-resistant epilepsy. We evaluated the patient to determine the best treatment option. Patient and methods: A 7-year-old boy with TSC exhibited weekly impaired awareness seizures and was diagnosed with TSC based on the modified Gomez's criteria. The presence of cortical tubers had been noted by his physicians. However, left temporal CA had not been diagnosed. He was referred to our facility for further treatment at the age of 33. Presurgical evaluation in our facility revealed the brain tubers and left temporal CA. Based on his seizure semiology, magnetic resonance imaging, scalp electroencephalogram, and long-term video monitoring, we determined his seizures were from the CA and not the TSC network. We then performed intraoperativeelectrocorticography (ECoG). Results: Because the ECoG showed epileptiform discharges from the surrounding area of the CA but not from other areas, we removed the CA. He has been seizure-free for more than 10 years. Conclusion:The higher likelihood of TSC as well as greater familiarity with this disorder might lead physicians to overlook the possibility of CA.

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“…The TSC2 gene is located at 16p13.3, adjacent to the PKD1 gene in a tail‐to‐tail orientation. Compared with TSC and ADPKD, PKDTS shows more severe polycystic kidney growth with early onset renal impairment and early end‐stage renal failure (Furlano et al., 2017). As of this writing, almost 70 patients have been reported.…”

Section: Introductionmentioning

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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Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

Cited by 9 publications

References 23 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

Removal of a temporal lobe cavernous angioma to control epileptic seizures in a patient with tuberous sclerosis complex

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

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