Antenatally Diagnosed ADPKD

Aldridge, Melanie; Patel, Chirag; Mallett, Andrew; Trnka, Peter

doi:10.1016/j.ekir.2018.05.002

Cited by 5 publications

(2 citation statements)

References 17 publications

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“…Our case represents an individual with ADPKD who was symptomatic at a young age, having a severe structural involvement of the kidney, development of hypertension, increased TKV, and development of glomerular hyperfiltration, with additional hypouricemia‐associated variant. Early ADPKD progression in our proband was established by antenatal cysts and other clinical outcomes of interest which included development of hypertension, increased TKV, development of glomerular hyperfiltration, as it has been previously described …”

Section: Discussionmentioning

confidence: 68%

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression

et al. 2020

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Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous inherited disease characterized by renal and extrarenal manifestations with progressive fluidfilled cyst development leading to end-stage renal disease. The rate of disease progression in ADPKD exhibits high inter-and intrafamilial variability suggesting involvement of modifier genes and/or environmental factors. Renal hypouricemia (RHUC) is an inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury and chronic kidney disease (CKD).However, the two disorders have distinct and well-delineated genetic, biochemical, and clinical findings. Only a few cases of coexistence of ADPKD and RHUC (type 1) in a single individual have been reported. We report a family with two members: an ADPKD 24-year-old female which presented bilateral renal cysts in utero and hypouricemia since age 5, and her mother with isolated hypouricemia. Next-generation sequencing identified two mutations in two genes PKD1 and SLC2A9 in this patient and one isolated SLC2A9 mutation in her mother, showing RHUC type 2, associated to CKD. The coexistence of these two disorders provides evidence of SLC2A9 variant could act as a modifier change, with synergistic actions, that could promote cystogenesis and rapid ADPKD progression. This is the first case of coexistence of PKD1 and SLC2A9 mutations treated with tolvaptan.

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Section: Discussionmentioning

confidence: 68%

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression

et al. 2020

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“…[ 11 ] In addition, the gene GANAB has also been identified to cause ADPKD. [ 12 ] Kidney progression of ADPKD is highly heterogeneous, partly resulting from different genetic factors (gene locus effect, modifier genes and even the unknown pathogenic genes) and environmental backgrounds. [ 13 14 15 16 ] After adjusting for age, individuals with PKD1 mutations have larger kidneys and earlier age of onset of ESRD than those with PKD2 mutations.…”

Section: Introductionmentioning

confidence: 99%

A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family

Zhang¹,

Wang²,

Zhao³

et al. 2021

Singapore Medical Journal

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Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a very common hereditary renal disorder. Mutations in PKD1 and PKD2, identified as disease-causing genes, cause about 85% and 15% of ADPKD cases, respectively. Methods: In this study, the mutation analysis of PKD genes was implemented in a Chinese family with suspected ADPKD using targeted clinical exome sequencing (CES). The candidate pathogenic variants were further tested by using Sanger sequencing and validated for co-segregation. In addition, reverse transcription-polymerase chain reaction (RT-PCR) was performed to test abnormal splicing and assess its potential pathogenicity. Results: A novel atypical splicing mutation which belongs to unclassified variants (UCVs), IVS6+5G>C, was identified in three family members by CES and was shown to co-segregate only with the affected individuals. RT-PCR reveals the abnormal splicing of exon 6, thus to cause truncating mutation. These findings suggest that the atypical splice site alteration, IVS6+5G>C, in the PKD2 gene is the potential pathogenic mutation leading to ADPKD in the Chinese family. Conclusion: The data available in this study provided strong evidence that IVS6+5G>C is the potential pathogenic mutation for ADPKD. Meantime, this case also emphasizes the significance of functional analysis of UCVs and genotype-phenotype correlation in ADPKD.

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Advances in our understanding of genetic kidney disease using kidney organoids

Little

Quinlan

2019

Pediatr Nephrol

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Antenatally Diagnosed ADPKD

Cited by 5 publications

References 17 publications

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression

A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family

Advances in our understanding of genetic kidney disease using kidney organoids

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