Tuberous Sclerosis Complex and Early-Onset Autosomal Dominant Polycystic Kidney Disease as a 'Contiguous Gene� Syndrome: Report of a Case

1997 ◽  
pp. 96-97 ◽  
Author(s):  
C. Mancino ◽  
A. Balducci
Keyword(s):  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Contiguous Gene ◽  
Autosomal Dominant Polycystic Kidney ◽  
Syndrome Report

scholarly journals Tuberous sclerosis associated with autosomal dominant polycystic kidney disease: Case report about of the TSC2/PKD1 contiguous gene syndrome

2016 ◽  
Vol 49 (6) ◽  
pp. 583
Author(s):  
Rodolfo M. Queiroz ◽  
Michela P. Gomes ◽  
Marcus V. N. Valentin ◽  
Cecília H. Miyake ◽  
Lucas G. Abud ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Contiguous Gene ◽  
Disease Case ◽  
Autosomal Dominant Polycystic Kidney

Relatamos o caso de mulher jovem portadora de doença renal crônica, com antecedentes de crises convulsivas, episódios de pneumotórax espontâneos e nefrectomia à esquerda. O estudo retrospectivo dos seus exames de imagem evidenciaram cistos hepáticos, renais e pulmonares; além de túberes corticais e nódulos subependimários no encéfalo. A avaliação anatomopatológica do rim removido cirurgicamente caracterizou doença policística renal do adulto. A revisão clínica em conjunto com esses exames revelou o diagnóstico de esclerose tuberosa e doença renal policística autossômica dominante, sugerindo síndrome do gene contíguo TSC2/PKD1

scholarly journals The Kidney Genetics Clinic: delivering precision medicine for kidney patients

2021 ◽  
Vol 35 (3) ◽  
Author(s):  
Joaquim Calado ◽  
◽  
Rui Barata ◽  
Rita Lucas ◽  
Telma Francisco ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Molecular Testing ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
The Impact

Molecular genetic testing in human traits has traditionally relied on affiliated academic facilities, been focused on specific phenotypes and supported by research funding. We report the experience of the Kidney Genetics Clinic (“consulta de Doenças Renais Hereditárias”) for the past 5 years, a period during which we have outsourced genetic testing. We evaluated the impact of molecular testing in patients’ care, but we also assessed disease‑specific imaging procedures and medicines provided. During the study period, 293 individuals were evaluated. Autosomal Dominant Polycystic Kidney Disease was the most frequent diagnosis (61.8%). In 125 patients, a genetic test was available, and for 76 of these (60.8%) a pathogenic/likely pathogenic variant was identified. Depend‑ ing on the phenotype, the mutation detection rate ranged from 100% (Tuberous Sclerosis Complex) to 15.4% (Autosomal Dominant Tubuloint‑ erstitial Kidney Disease). The impact of genetic testing on patients’ diagnosis and treatments is discussed. Total kidney volume was calculated in 6 patients with Autosomal Dominant Polycystic Kidney Disease and the combined volume for selected angiomyolipoma monitored in 3 individuals with the Tuberous Sclerosis Complex. Currently, 4 patients are being treated with Everolimus/Votubia™, 3 with Eculizumab/Soliris™ and 2 with Tolvaptan/Jinarc™. Our results demonstrate the feasibility of genetic molecular testing in a clinical setting while relying on outsourced sites for gene testing. We emphasize that it was only because the Kidney Genetics Clinic was given the opportunity to look after several patients affected by the same specific orphan or rare diseases (cohort enrichment) that we were able to improve diagnostic skills and deliver personalized medicines.

scholarly journals Tuberous Sclerosis Complex with an Unruptured Intracranial Aneurysm: Manifestations of Contiguous Gene Syndrome

2001 ◽  
Vol 7 (4) ◽  
pp. 337-341 ◽  
Author(s):  
Y.L. Chen ◽  
C.B. Luo ◽  
S.W. Hsu ◽  
G. Rodesch ◽  
P. Lasjaunias
Keyword(s):  
Kidney Disease ◽  
General Population ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Contiguous Gene

With the advancement of molecular genetics, the deletion of the TSC2/PKD1 gene at chromosome 16p13.3 has been discovered to be responsible for the tuberous sclerosis complex sharing some of the clinical manifestations of autosomal dominant adult polycystic kidney disease such as multiple renal cysts and intracranial aneurysms. The unruptured aneurysm in tuberous sclerosis complex is far beyond the meaning it has in general population. The risk of aneurysmal hemorrhage in tuberous sclerosis complex may be higher than that in autosomal dominant adult polycystic kidney disease due to the synergistic effect of gene deletion and certainly much higher than that in the general population. For such high-risk patients with intracranial aneurysms doomed to subarachnoid hemorrhage, magnetic resonance angiography plays an important role in screening and follow-up, especially more critically for patients with contiguous gene syndrome. Endovascular coil embolization should be the first choice of treatment for unruptured intracranial aneurysms.

scholarly journals Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Kenji Gonda ◽  
Takanori Akama ◽  
Takayuki Nakamura ◽  
Eiko Hashimoto ◽  
Naomi Kyoya ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Triple Negative ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Cluster Of Differentiation

Abstract Background Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst formation due to mutations in the PKD1 or PKD2 gene, whereas tuberous sclerosis complex is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of the TSC2 gene. A TSC2/PKD1 contiguous gene syndrome, which is caused by a chromosomal mutation that disrupts both the TSC2 and PKD1 genes, has been identified in patients with tuberous sclerosis complex and severe early-onset autosomal dominant polycystic kidney disease. The tumor tissue of patients with breast cancer with contiguous gene syndrome has a high mutation burden and produces several neoantigens. A diffuse positive immunohistochemistry staining for cluster of differentiation 8+ in the T cells of breast cancer tissue is consistent with neoantigen production due to high mutation burden. Case presentation A 61-year-old Japanese woman who had been undergoing dialysis for 23 years because of end-stage renal failure secondary to autosomal dominant polycystic kidney disease was diagnosed as having triple-negative breast cancer and underwent mastectomy in 2015. She had a history of epilepsy and skin hamartoma. Her grandmother, mother, two aunts, four cousins, and one brother were also on dialysis for autosomal dominant polycystic kidney disease. Her brother had epilepsy and a brain nodule. Another brother had a syndrome of kidney failure, intellectual disability, and diabetes mellitus, which seemed to be caused by mutation in the CREBBP gene. Immunohistochemistry of our patient’s breast tissue showed cluster of differentiation 8 and programmed cell death ligand 1 positivity. Conclusions Programmed cell death ligand 1 checkpoint therapy may be effective for recurrence of triple-negative breast cancer in a patient with autosomal dominant polycystic kidney disease and tuberous sclerosis complex.

scholarly journals Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease

2016 ◽  
Vol 44 (3) ◽  
pp. 171-178 ◽  
Author(s):  
Kristen L. Nowak ◽  
Melissa A. Cadnapaphornchai ◽  
Michel B. Chonchol ◽  
Robert W. Schrier ◽  
Berenice Gitomer
Keyword(s):  
Kidney Disease ◽  
Clinical Outcomes ◽  
Polycystic Kidney Disease ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Glomerular Hyperfiltration ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Background: Long-term clinical outcomes in children with very-early onset (VEO; diagnosis in utero or within the first 18 months of life) autosomal dominant polycystic kidney disease (ADPKD) are currently not well understood. We conducted a longitudinal retrospective cohort study to assess the association between VEO status and adverse clinical outcomes. Methods: Seventy patients with VEO-ADPKD matched (by year of birth, sex and race/ethnicity) to 70 patients with non-VEO-ADPKD who participated in research at the University of Colorado were studied. Kaplan-Meier survival analysis was performed. The predictor was VEO status, and outcomes were progression to end-stage renal disease (ESRD), development of hypertension, progression to estimated glomerular filtration rate (eGFR <90 ml/min/1.73 m2), glomerular hyperfiltration (eGFR ≥140 ml/min/1.73 m2) and height-adjusted total kidney volume (htTKV) measured by MRI ≥600 ml/m. Results: Median follow-up was until 16.0 years of age. There were only 4 ESRD events during the follow-up period, all in the VEO group (p < 0.05). VEO patients were more likely to develop hypertension (hazard ratio, HR 3.15, 95% CI 1.86-5.34; p < 0.0001) and to progress to eGFR <90 ml/min/1.73 m2 (HR 1.97, 95% CI 1.01-3.84; p < 0.05) than non-VEO patients. There was no difference between groups in the development of glomerular hyperfiltration (HR 0.89, 95% CI 0.56-1.42; p = 0.62). There were only 7 patients who progressed to htTKV ≥600 ml/m, 4 in the VEO group and 3 in the non-VEO group (p < 0.01). Conclusions: Several clinical outcomes are worse in patients with VEO-ADPKD compared to non-VEO ADPKD. Children with VEO-ADPKD represent a particularly high-risk group of ADPKD patients.

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