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.

Individualized concept for the treatment of autosomal recessive polycystic kidney disease with end‐stage renal disease

2020 ◽  
Vol 24 (3) ◽  
Author(s):  
Kenichiro Miura ◽  
Yasuyuki Sato ◽  
Tomoo Yabuuchi ◽  
Naoto Kaneko ◽  
Kiyonobu Ishizuka ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Disease ◽  
Polycystic Kidney Disease ◽  
End Stage Renal Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

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.

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 Hypertension in adult polycystic kidney disease: a narrative review

2019 ◽  
Vol 8 (2) ◽  
pp. 122-126
Author(s):  
Sarah Mian ◽  
Yogesh Acharya ◽  
Ranjan Dahal
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Focal Point ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Renal Disorder ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage ◽  
Review Current

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disorder that impacts approximately 12 million worldwide. It is characterized by bilateral kidney enlargement and cystic growth. Hypertension (HTN) is a focal point in the management of ADPKD and is linked to a faster progression to end stage renal disease. Current novel therapies have proven to reduce the progression of renal damage. The ideal goal is to minimize risk through preventative studies and pharmacology to further increase life expectancy and quality. The purpose of this article is to highlight the importance of blood pressure management in ADPKD and review current literature to determine the most effective preventative pharmacotherapy.

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