scholarly journals Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease

2021 ◽  
pp. 1-7
Author(s):  
Ryohei Miyamoto ◽  
Akinari Sekine ◽  
Takuya Fujimaru ◽  
Tatsuya Suwabe ◽  
Hiroki Mizuno ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Structural Data ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Cardiac Events ◽  
Significant Difference ◽  
Autosomal Dominant Polycystic Kidney

<b><i>Background:</i></b> Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease and is well known to have extrarenal complications. Cardiovascular complications are of particular clinical relevance because of their morbidity and mortality; however, unclear is why they occur so frequently in patients with ADPKD and whether they are related to the genotypes. <b><i>Methods:</i></b> We extracted and retrospectively analyzed clinical data on patients with ADPKD who underwent echocardiography and whose genotype was confirmed by genetic testing between April 2016 and December 2020. We used next-generation sequencing to compare cardiac function, structural data, and the presence of cardiac valvular disease in patients with 1 of 3 genotypes: <i>PKD1</i>, <i>PKD2</i>, and non-<i>PKD1</i>, <i>2</i>. <b><i>Results:</i></b> This retrospective study included 65 patients with ADPKD. Patients were divided into 3 groups: <i>PKD1</i>, <i>n</i> = 32; <i>PKD2</i>, <i>n</i> = 12; and non-<i>PKD1</i>, <i>2</i>, <i>n</i> = 21. The prevalence of mitral regurgitation (MR) was significantly higher in the <i>PKD1</i> group than in the <i>PKD2</i> and non-<i>PKD1</i>, <i>2</i> group (46.9% vs. 8.3% vs. 19.0%, respectively; <i>p</i> = 0.02). In contrast, no significant difference was found for other cardiac valve complications. <b><i>Conclusion:</i></b> This study found a significantly higher prevalence of MR in patients with the <i>PKD1</i> genotype than in those with the <i>PKD2</i> or non-<i>PKD1</i>, <i>2</i> genotypes. Physicians may need to perform echocardiography earlier and more frequently in patients with ADPKD and the <i>PKD1</i> genotype and to control fluid volume and blood pressure more strictly in these patients to prevent future cardiac events.

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease

2018 ◽  
Vol 34 (9) ◽  
pp. 1453-1460 ◽  
Author(s):  
Matthew B Lanktree ◽  
Ioan-Andrei Iliuta ◽  
Amirreza Haghighi ◽  
Xuewen Song ◽  
York Pei
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Mutation Screening ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2. In the presence of a positive family history of ADPKD, genetic testing is currently seldom indicated as the diagnosis is mostly based on imaging studies using well-established criteria. Moreover, PKD1 mutation screening is technically challenging due to its large size, complexity (i.e. presence of six pseudogenes with high levels of DNA sequence similarity) and extensive allelic heterogeneity. Despite these limitations, recent studies have delineated a strong genotype–phenotype correlation in ADPKD and begun to unravel the role of genetics underlying cases with atypical phenotypes. Furthermore, adaptation of next-generation sequencing (NGS) to clinical PKD genetic testing will provide a high-throughput, accurate and comprehensive screen of multiple cystic disease and modifier genes at a reduced cost. In this review, we discuss the evolving indications of genetic testing in ADPKD and how NGS-based screening promises to yield clinically important prognostic information for both typical as well as unusual genetic (e.g. allelic or genic interactions, somatic mosaicism, cystic kidney disease modifiers) cases to advance personalized medicine in the era of novel therapeutics for ADPKD.

scholarly journals Diagnostic accuracy of administrative codes for autosomal dominant polycystic kidney disease in clinic patients with cystic kidney disease

2020 ◽  
Author(s):  
Vinusha Kalatharan ◽  
Eric McArthur ◽  
Danielle M Nash ◽  
Blayne Welk ◽  
Sisira Sarma ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
International Classification Of Diseases ◽  
Cystic Kidney Disease ◽  
Administrative Databases ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Icd 10 ◽  
Autosomal Dominant Polycystic Kidney

Abstract Background The ability to identify patients with autosomal dominant polycystic kidney disease (ADPKD) and distinguish them from patients with similar conditions in healthcare administrative databases is uncertain. We aimed to measure the sensitivity and specificity of different ADPKD administrative coding algorithms in a clinic population with non-ADPKD and ADPKD kidney cystic disease. Methods We used a dataset of all patients who attended a hereditary kidney disease clinic in Toronto, Ontario, Canada between 1 January 2010 and 23 December 2014. This dataset included patients who met our reference standard definition of ADPKD or other cystic kidney disease. We linked this dataset to healthcare databases in Ontario. We developed eight algorithms to identify ADPKD using the International Classification of Diseases, 10th Revision (ICD-10) codes and provincial diagnostic billing codes. A patient was considered algorithm positive if any one of the codes in the algorithm appeared at least once between 1 April 2002 and 31 March 2015. Results The ICD-10 coding algorithm had a sensitivity of 33.7% [95% confidence interval (CI) 30.0–37.7] and a specificity of 86.2% (95% CI 75.7–92.5) for the identification of ADPKD. The provincial diagnostic billing code had a sensitivity of 91.1% (95% CI 88.5–93.1) and a specificity of 10.8% (95% CI 5.3–20.6). Conclusions ICD-10 coding may be useful to identify patients with a high chance of having ADPKD but fail to identify many patients with ADPKD. Provincial diagnosis billing codes identified most patients with ADPKD and also with other types of cystic kidney disease.

Cystic Diseases of the Kidney

2017 ◽  
Author(s):  
Christian Riella ◽  
Peter G Czarnecki ◽  
Theodor I Steinman
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Gene ◽  
Renal Cysts ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
End Stage

The spectrum of cystic kidney diseases encompasses a wide range of genetic syndromes with different identified disease genes, modes of inheritance, extrarenal organ manifestations, and clinical progression. Depending on the given disease gene and type of mutation in a respective cystic kidney disease, the age of onset, pathologic characteristics, and rate of progression to end-stage kidney disease vary considerably. This review covers disease definitions, etiology and genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, and treatment of cystic kidney disease. Additionally, simple and complex renal cysts in adults are discussed. Tables list the epidemiology of polycystic kidney disease, gene locus, and encoded protein, unified criteria for ultrasonographic diagnosis of autosomal dominant polycystic kidney disease (APDKD), risk factors for progressive kidney disease in APDKD, differential diagnosis of cystic diseases of the kidney, Halt Progression of Polycystic Kidney Disease trial summary, and other extrarenal manifestations of ADPDK. Key Words: Cystic kidney disease; Autosomal dominant polycystic kidney disease; APDKD; Polycystic kidney disease; PKD; End-stage renal disease; Renal cysts; Progressive kidney disease

scholarly journals Evaluation of common polymorphisms of eNOS gene and ACE gene in autosomal dominant polycystic kidney disease patients and their association with hypertension and renal failure

2019 ◽  
Vol 10 (1) ◽  
pp. e04-e04
Author(s):  
Tahereh Malakoutian ◽  
Bahareh Madadi ◽  
Ahmad Ebrahimi
Keyword(s):  
Kidney Disease ◽  
Renal Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Enos Gene ◽  
Polycystic Kidney ◽  
Ace Gene ◽  
Control Subjects ◽  
Significant Difference ◽  
Autosomal Dominant Polycystic Kidney

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most hereditary renal disease that leads to end-stage renal disease (ESRD). Objectives: Since there is no available parameter to assess the clinical course of ADPKD and its outcome, yet, the aim of our study was evaluation of the association of common polymorphisms of eNOS and ACE genes with clinical manifestations (kidney failure and hypertension) in ADPKD. Patients and Methods: Seventy-five ADPKD patients and 100 control subjects participated in our study. Around 7.5 cc of whole blood was taken from each participant and sent to the genetic laboratory. DNA was obtained from them by the phenol chloroform extraction and ethanol precipitation techniques. Then genotyping for I/D polymorphism of ACE gene and Glu298 ASP and T786C polymorphisms of eNOS gene was performed by PCR electrophoresis and molecular evaluation by special primers for two genes. Results: The frequency of DD polymorphism of ACE gene and TC polymorphism of T786C of eNOS were considerably elevated in ADPKD individuals than control subjects. No significant difference between groups regarding Glu298 ASP polymorphisms of eNOS gene was detected. In ADPKD patients, 29 patients (39%) had hypertension, 5 patients (6.7%) had diabetes and 43 patients (57%) had glomerular filtration rate (GFR) below 60 mL/min/1.73 m2 . The polymorphisms of ACE and eNOS genes were not meaningfully different regarding diabetes, high blood pressure, GFR and plasma creatinine in ADPKD individuals (P>0.05). Conclusion: In our study, we could not find any association between polymorphisms of ACE and eNOS genes with renal insufficiency and hypertension in ADPKD patients.

scholarly journals Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease

2018 ◽  
Vol 56 (1) ◽  
pp. 90-94 ◽  
Author(s):  
Tomáš Seeman ◽  
Magdaléna Fořtová ◽  
Bruno Sopko ◽  
Richard Průša ◽  
Michael Pohl ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Kidney Diseases ◽  
Differential Diagnostics ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Cystic Kidney Diseases ◽  
Rule Out

Background Hypomagnesaemia is present in 40–50% of children with autosomal dominant renal cysts and diabetes syndrome (RCAD). On the contrary, the prevalence of hypomagnesaemia in children with autosomal dominant polycystic kidney disease (ADPKD) has never been examined. We aimed to investigate whether hypomagnesaemia is present in children with polycystic kidney diseases. Methods Children with cystic kidney diseases were investigated in a cross-sectional study. Serum concentrations of magnesium (S-Mg) and fractional excretion of magnesium (FE-Mg) were tested. Fifty-four children with ADPKD ( n = 26), autosomal recessive polycystic kidney disease (ARPKD) ( n = 16) and RCAD ( n = 12) with median age of 11.2 (0.6–18.6) years were investigated. Results Hypomagnesaemia (S-Mg < 0.7 mmol/L) was detected in none of the children with ADPKD/ARPKD and in eight children (67%) with RCAD. Median S-Mg in children with ADPKD/ARPKD was significantly higher than in children with RCAD (0.89 vs. 0.65 mmol/L, P < 0.01). The FE-Mg was increased in 23% of patients with ADPKD/ARPKD (all had chronic kidney disease stages 2–4) and in 63% of patients with RCAD, where it significantly correlated with estimated glomerular filtration rate (r = −0.87, P < 0.01). Conclusions Hypomagnesaemia is absent in children with ADPKD or ARPKD and could serve as a marker for differential diagnostics between ADPKD, ARPKD and RCAD in children with cystic kidney diseases of unknown origin where molecular genetic testing is lacking. However, while hypomagnesaemia, in the absence of diuretics, appears to rule out ADPKD and ARPKD, normomagnesaemia does not rule out RCAD at least in those aged <3 years.

Peritoneal Dialysis for Patients with Autosomal Dominant Polycystic Kidney Disease

2017 ◽  
Vol 37 (4) ◽  
pp. 384-388 ◽  
Author(s):  
Sana Khan ◽  
Anna Giuliani ◽  
Carlo Crepaldi ◽  
Claudio Ronco ◽  
Mitchell H. Rosner
Keyword(s):  
Peritoneal Dialysis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Patient ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

End-stage renal disease secondary to autosomal dominant poly-cystic kidney (ADPKD) is a common issue worldwide. Peritoneal dialysis (PD) is a reasonable option for renal replacement therapy for these patients and should not be withheld due to concerns that the patient may not tolerate the fluid volumes in the peritoneal cavity. This review covers the existing data on the outcomes and complications associated with the use of PD in the polycystic kidney disease patient. In general, PD is well tolerated and outcomes in ADPKD patients are equivalent to or better than other patient groups.

scholarly journals The effect of uninephrectomy on progression of renal failure in autosomal dominant polycystic kidney disease.

1992 ◽  
Vol 3 (5) ◽  
pp. 1119-1123
Author(s):  
M Zeier ◽  
S Geberth ◽  
A Gonzalo ◽  
D Chauveau ◽  
J P Grünfeld ◽  
...  
Keyword(s):  
Renal Failure ◽  
Kidney Disease ◽  
Serum Creatinine ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
End Stage Renal Failure ◽  
Significant Difference ◽  
Autosomal Dominant Polycystic Kidney ◽  
End Stage

The evolution of renal failure was compared in 47 patients (21 male, 26 female) with autosomal dominant polycystic kidney disease (ADPKD) in Germany, France, Spain, and Portugal who had undergone uninephrectomy (UNX) (median age at uninephrectomy, 41 yr; range, 22 to 54) and 47 non-UNX matched controls. UNX was usually performed because of uncontrolled urinary tract infection (N = 30), stones (N = 8), trauma (N = 2), or hemorrhage (N = 7). Median serum creatinine at UNX was 2.1 mg/dL (0.9 to 4.3). Twenty-eight of the 47 uninephrectomized patients progressed to end-stage renal failure. When the age at renal death was evaluated by survival analysis, only minor and nonsignificant acceleration was seen in the uninephrectomized patients (median, 50 yr; p25 = 43.6 yr; p75 = 58.3 yr, where p is the percentile) compared with non-UNX patients matched for age, sex, and serum creatinine at the time of UNX in the propositus (51.2 yr; p25 = 48.6 yr; p75 = 56.1 yr). In addition, the median interval for serum creatinine to rise from 4 to 8 mg/dL was similar in UNX (21.3 months) versus nonuninephrectomized ADPKD patients (21.9 months). Renal survival differed in the two genders. In females, no significant difference of age at renal death was found between UNX (median age, 51.6 yr) and non-UNX ADPKD patients (53.7 yr). In male UNX patients, age at renal death was slightly (but not significantly) less than in non-UNX patients (median age, 47.3 versus 52.7 yr). All male patients reaching end-stage renal failure before age 44 were severely hypertensive.

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