Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease

The exponential rise in our understanding of the aetiology and pathophysiology of genetic cystic kidney diseases can be attributed to the identification of cystogenic genes over the last three decades. The foundation of this was laid by positional cloning strategies which gradually shifted towards n...

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Autores principales:	Shabarni Gupta, Justyna E. Ozimek-Kulik, Jacqueline Kathleen Phillips
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	nephronophthisis kidney cyst polycystic kidney disease nephrocystin polycystin Genetics QH426-470
Acceso en línea:	https://doaj.org/article/6c0a330b50ba4c10a651ee48e716563e
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id	oai:doaj.org-article:6c0a330b50ba4c10a651ee48e716563e
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spelling	oai:doaj.org-article:6c0a330b50ba4c10a651ee48e716563e2021-11-25T17:41:38ZNephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease10.3390/genes121117622073-4425https://doaj.org/article/6c0a330b50ba4c10a651ee48e716563e2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1762https://doaj.org/toc/2073-4425The exponential rise in our understanding of the aetiology and pathophysiology of genetic cystic kidney diseases can be attributed to the identification of cystogenic genes over the last three decades. The foundation of this was laid by positional cloning strategies which gradually shifted towards next-generation sequencing (NGS) based screenings. This shift has enabled the discovery of novel cystogenic genes at an accelerated pace unlike ever before and, most notably, the past decade has seen the largest increase in identification of the genes which cause nephronophthisis (NPHP). NPHP is a monogenic autosomal recessive cystic kidney disease caused by mutations in a diverse clade of over 26 identified genes and is the most common genetic cause of renal failure in children. NPHP gene types present with some common pathophysiological features alongside a diverse range of extra-renal phenotypes associated with specific syndromic presentations. This review provides a timely update on our knowledge of this disease, including epidemiology, pathophysiology, anatomical and molecular features. We delve into the diversity of the NPHP causing genes and discuss known molecular mechanisms and biochemical pathways that may have possible points of intersection with polycystic kidney disease (the most studied renal cystic pathology). We delineate the pathologies arising from extra-renal complications and co-morbidities and their impact on quality of life. Finally, we discuss the current diagnostic and therapeutic modalities available for disease management, outlining possible avenues of research to improve the prognosis for NPHP patients.Shabarni GuptaJustyna E. Ozimek-KulikJacqueline Kathleen PhillipsMDPI AGarticlenephronophthisiskidneycystpolycystic kidney diseasenephrocystinpolycystinGeneticsQH426-470ENGenes, Vol 12, Iss 1762, p 1762 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	nephronophthisis kidney cyst polycystic kidney disease nephrocystin polycystin Genetics QH426-470
spellingShingle	nephronophthisis kidney cyst polycystic kidney disease nephrocystin polycystin Genetics QH426-470 Shabarni Gupta Justyna E. Ozimek-Kulik Jacqueline Kathleen Phillips Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease
description	The exponential rise in our understanding of the aetiology and pathophysiology of genetic cystic kidney diseases can be attributed to the identification of cystogenic genes over the last three decades. The foundation of this was laid by positional cloning strategies which gradually shifted towards next-generation sequencing (NGS) based screenings. This shift has enabled the discovery of novel cystogenic genes at an accelerated pace unlike ever before and, most notably, the past decade has seen the largest increase in identification of the genes which cause nephronophthisis (NPHP). NPHP is a monogenic autosomal recessive cystic kidney disease caused by mutations in a diverse clade of over 26 identified genes and is the most common genetic cause of renal failure in children. NPHP gene types present with some common pathophysiological features alongside a diverse range of extra-renal phenotypes associated with specific syndromic presentations. This review provides a timely update on our knowledge of this disease, including epidemiology, pathophysiology, anatomical and molecular features. We delve into the diversity of the NPHP causing genes and discuss known molecular mechanisms and biochemical pathways that may have possible points of intersection with polycystic kidney disease (the most studied renal cystic pathology). We delineate the pathologies arising from extra-renal complications and co-morbidities and their impact on quality of life. Finally, we discuss the current diagnostic and therapeutic modalities available for disease management, outlining possible avenues of research to improve the prognosis for NPHP patients.
format	article
author	Shabarni Gupta Justyna E. Ozimek-Kulik Jacqueline Kathleen Phillips
author_facet	Shabarni Gupta Justyna E. Ozimek-Kulik Jacqueline Kathleen Phillips
author_sort	Shabarni Gupta
title	Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease
title_short	Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease
title_full	Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease
title_fullStr	Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease
title_full_unstemmed	Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease
title_sort	nephronophthisis-pathobiology and molecular pathogenesis of a rare kidney genetic disease
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/6c0a330b50ba4c10a651ee48e716563e
work_keys_str_mv	AT shabarnigupta nephronophthisispathobiologyandmolecularpathogenesisofararekidneygeneticdisease AT justynaeozimekkulik nephronophthisispathobiologyandmolecularpathogenesisofararekidneygeneticdisease AT jacquelinekathleenphillips nephronophthisispathobiologyandmolecularpathogenesisofararekidneygeneticdisease
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Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease

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