scholarly journals Polycystic kidney disease - autopsy review from the period 1987-2007

2008 ◽  
Vol 136 (Suppl. 4) ◽  
pp. 294-297
Author(s):  
Sanja Radojevic-Skodric ◽  
Ljiljana Bogdanovic ◽  
Milena Jovanovic ◽  
Ivana Baralic ◽  
Marina Savin ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Insufficiency ◽  
Polycystic Kidney Disease ◽  
Cause Of Death ◽  
Clinical Manifestations ◽  
Morphological Characteristics ◽  
Pancreatic Cysts ◽  
Polycystic Kidney ◽  
Hepatic Cysts ◽  
End Stage

INTRODUCTION. Polycystic kidney disease is an inherited kidney disease that affects both kidneys and it is characterized by diffuse replacement of renal parenchyma by thousands of microcysts. In time, renal insufficiency develops. There are two forms of PKD: ADPKD, which is detected in adults (children are rarely affected), and ARPKD, which is detected in neonates (later presentations do occur, but rarely). OBJECTIVE. The aim of this study was to analyse frequency of polycystic kidney disease, clinical data and morphological characteristics. METHOD. At the Institute of Pathology, School of Medicine, Belgrade, there were detected 33 cases of ADPKD and 20 cases of ARPKD between 1987 and 2007. RESULTS. There were no differences between incidence of ADPKD in males and females. Average age of patients with ADPKD was 52 years. In 20 (66.7%) cases of ADPKD there were neither extrarenal cysts nor extrarenal manifestations detected. In other 13 cases, we detected extrarenal cysts: hepatic cysts in 8 cases, pancreatic cysts in 5 cases. In two cases, hepatic cysts were associated with intracranial (arachnoid cysts) and extracranial aneurysms. The most frequent cause of death in patients with ADPKD was end-stage disease. ARPKD affects more often male children compared to female. 70% of children with ARPKD were male. The mean age of patients with ARPKD was 1 month. 5 patients (40%) had hepatic fibrosis. The most frequent cause of death was respiratory insufficiency (75%). In 25% of patients, the cause of death was sepsis and renal insufficiency. CONCLUSION. Morphological and clinical manifestations of the analysed cases of both types of PKD are fairly consistent with literature data. Better knowing of aethiopathogenesis of PKD will facilitate early diagnosis, based on clinical and morphological characteristics and better management of the disease.

scholarly journals Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

2021 ◽  
Vol 22 (12) ◽  
pp. 6523
Author(s):  
Adrian Cordido ◽  
Marta Vizoso-Gonzalez ◽  
Miguel A. Garcia-Gonzalez
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Molecular Basis ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Phenotypic Spectrum ◽  
New Gene ◽  
Stage Renal Disease ◽  
End Stage ◽  
Molecular Pathophysiology

Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum. In addition, a number of molecular pathways involved in the ARPKD pathogenesis and progression were elucidated using cellular and animal models. However, the function of the ARPKD proteins and the molecular mechanism of the disease currently remain incompletely understood. Here, we review the clinics, treatment, genetics, and molecular basis of ARPKD, highlighting the most recent findings in the field.

Diagnosis of infected kidney cysts in patients with autosomal dominant polycystic kidney disease and end-stage renal disease

Urologiia ◽  
2021 ◽  
Vol 3_2021 ◽  
pp. 50-55
Author(s):  
A.E. Lubennikov Lubennikov ◽  
A.A. Shishimorov Shishimorov ◽  
R.N. Trushkin Trushkin ◽  
T.K. Isaev T ◽  
O.N. Kotenko Kotenko ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Disease ◽  
Polycystic Kidney Disease ◽  
End Stage Renal Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Kidney Cysts ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals An Overview of In Vivo and In Vitro Models for Autosomal Dominant Polycystic Kidney Disease: A Journey from 3D-Cysts to Mini-Pigs

2020 ◽  
Vol 21 (12) ◽  
pp. 4537
Author(s):  
Svenja Koslowski ◽  
Camille Latapy ◽  
Pierrïck Auvray ◽  
Marc Blondel ◽  
Laurent Meijer
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
In Vitro Models ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inheritable cause of end stage renal disease and, as of today, only a single moderately effective treatment is available for patients. Even though ADPKD research has made huge progress over the last decades, the precise disease mechanisms remain elusive. However, a wide variety of cellular and animal models have been developed to decipher the pathophysiological mechanisms and related pathways underlying the disease. As none of these models perfectly recapitulates the complexity of the human disease, the aim of this review is to give an overview of the main tools currently available to ADPKD researchers, as well as their main advantages and limitations.

scholarly journals Recent advances in the clinical management of autosomal dominant polycystic kidney disease

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 116 ◽  
Author(s):  
Roser Torra
Keyword(s):  
Renal Failure ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Hepatic Cysts ◽  
Live Births ◽  
Recent Advances ◽  
Systemic Disorder ◽  
Autosomal Dominant Polycystic Kidney

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. Early hypertension and progressive renal failure due to massive enlargement of cysts and fibrosis are hallmarks of the disease. This article reviews recent advances in ADPKD and focuses mainly on diagnosis, management, and prediction of the course of the disease.

scholarly journals Extracardiac compression of right atrium by hepatic cysts in a patient with polycystic kidney disease

2016 ◽  
Vol 90 (1) ◽  
pp. 230
Author(s):  
Kian G. Lee ◽  
Su H. Teo ◽  
John Huang ◽  
Kenneth W.Q. Guo ◽  
Jia L. Kwek
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Right Atrium ◽  
Polycystic Kidney ◽  
Hepatic Cysts

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.

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