Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing

Conclusion: This study demonstrates the effectiveness of NGS in significantly reducing the cost and time for simultaneous sequence analysis of PKD1 and PKD2, simplifying the genetic diagnostics of ADPKD. Although a probable correlation between the mutation types and phenotypic outcome is possible, however for more extensive studies in future, the consideration of renal hypouricemia (RHUC) and PKD1 coexistence may be helpful. The novel frameshift mutations reported by this study are p. Q1997X, P. D73X and p. V336X.Kidney Blood Press Res 2018;43:471 –478
Source: Kidney and Blood Pressure Research - Category: Urology & Nephrology Source Type: research

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The short-term efficacy of tolvaptan in patients with autosomal dominant polycystic kidney disease (ADPKD) has been demonstrated across several phase 3 trials, while the ADPKD Outcomes Model (ADPKD-OM) represe...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Research article Source Type: research
We examined clinically approved nerve conduits containing collagen and polyglycolic acid (PGA ‐c) combined with collagen‐binding basic fibroblast growth factor (bFGF) containing a polycystic kidney disease (PKD) domain and collagen binding domain (CBD) (bFGF‐PKD‐CBD) in a rat 15‐mm sciatic nerve critical‐size defect model. The treatment groups were: PGA‐c immersed in phosphate‐ buffered saline (PBS) (PGA‐c/PBS group), bFGF (PGA‐c/bFGF group), or bFGF‐PKD‐CBD (PGA‐c/bFGF‐PKD‐CBD group), and no treatment (Defect group). Gait and histological analyses were performed. Four weeks after treatment, t...
Source: Journal of Biomedical Materials Research Part B: Applied Biomaterials - Category: Materials Science Authors: Tags: Original Research Report Source Type: research
ConclusionsWe demonstrated that TRPC3 upregulation upon PC2 knockdown aggravated the mitochondrial abnormalities and cell proliferation by modulating mitochondrial calcium uptake. Targeting TRPC3 might be a promising target for ADPKD treatment.
Source: International Urology and Nephrology - Category: Urology & Nephrology Source Type: research
Polycystic liver disease is the most common extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD). There is need for robust long-term evidence for the volume-reducing effect of somatostatin analogues. We made use of data from an open-label, randomized trial to determine the effects of lanreotide on height-adjusted liver volume (hTLV) and combined height-adjusted liver and kidney volume (hTLKV) in patients with ADPKD.
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
AbstractPurposeThe decrease in kidney functions in autosomal dominant polycystic kidney disease (ADPKD) is strongly correlated with the severity and growth of kidney cysts. Total kidney volume (TKV) was shown to be an early marker of the severity of the disease and a predictor of reduction in kidney functions. New treatment approaches for ADPKD have led to a need for easily applicable strong biomarkers predicting progression of the disease. The profibrotic mediator of galectin-3 (Gal-3) is linked to development of renal fibrosis.MethodsThe study included 74 patients with ADPKD diagnosis and 40 healthy controls. The TKV of ...
Source: International Urology and Nephrology - Category: Urology & Nephrology Source Type: research
CONCLUSIONS: In our study, we showed an elevated prevalence of urological functional diseases in ADPKD patients; therefore, we suggest to include uroflowmetry in the assessment of these patients, considering the non-invasiveness, repeatability and low cost of the exam. An early intervention could slow down the progression of renal damage and an early screening of the main cardiovascular risk factors could reduce the high morbidity and mortality in ADPKD patients. PMID: 31002123 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Publication date: May 2019Source: American Journal of Kidney Diseases, Volume 73, Issue 5Author(s):
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
Publication date: May 2019Source: American Journal of Kidney Diseases, Volume 73, Issue 5Author(s):
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
Publication date: May 2019Source: American Journal of Kidney Diseases, Volume 73, Issue 5Author(s):
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
Publication date: May 2019Source: American Journal of Kidney Diseases, Volume 73, Issue 5Author(s):
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
More News: Genetics | Iran Health | Polycystic Kidney Disease | Study | Urology & Nephrology