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Gender-Dependent Phenotype in Polycystic Kidney Disease Is Determined by Differential Intracellular Ca2+ Signals
 
 
Review

Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

1
Grupo de Xenética e Bioloxía do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefroloxía (No. 11), Instituto de Investigación Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain
2
Grupo de Medicina Xenómica, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain
3
Fundación Publica Galega de Medicina Xenómica-SERGAS, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain
*
Author to whom correspondence should be addressed.
Equal contribution.
Academic Editor: Ivano Condò
Int. J. Mol. Sci. 2021, 22(12), 6523; https://doi.org/10.3390/ijms22126523
Received: 31 May 2021 / Revised: 15 June 2021 / Accepted: 16 June 2021 / Published: 17 June 2021
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. View Full-Text
Keywords: ARPKD; cyst; rare monogenic disease; nephrology ARPKD; cyst; rare monogenic disease; nephrology
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MDPI and ACS Style

Cordido, A.; Vizoso-Gonzalez, M.; Garcia-Gonzalez, M.A. Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease. Int. J. Mol. Sci. 2021, 22, 6523. https://doi.org/10.3390/ijms22126523

AMA Style

Cordido A, Vizoso-Gonzalez M, Garcia-Gonzalez MA. Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease. International Journal of Molecular Sciences. 2021; 22(12):6523. https://doi.org/10.3390/ijms22126523

Chicago/Turabian Style

Cordido, Adrian, Marta Vizoso-Gonzalez, and Miguel A. Garcia-Gonzalez. 2021. "Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease" International Journal of Molecular Sciences 22, no. 12: 6523. https://doi.org/10.3390/ijms22126523

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