Working Out Nephronophthisis Genetics One Family at a Time

Çalışkan, Yaşar; Gharavi, Ali G.

doi:10.1681/asn.2013040427

Cited by 3 publications

(2 citation statements)

References 16 publications

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“…We and others have demonstrated increased circulating levels of pathogenic CKD-MBD factors (e.g., FGF23, Dkk1, sclerostin, activin-A) in humans with stage 2–3 native CKD versus no CKD (11, 14) and in kidney transplant recipients with chronic allograft injury versus normal transplant biopsies (84), suggesting they may play an important role as functional biomarkers of the early CKD-MBD in both native and transplant CKD. However, other studies have reported significant variability in circulating levels of these factors across the spectrum of native and transplant CKD, cautioning against their use as reliable biomarkers in humans at present (22, 78, 85, 86).…”

Section: Application Of Emerging Concepts In the Ckd-mbd To Kidney Trmentioning

confidence: 84%

The Kidney-Vascular-Bone Axis in the Chronic Kidney Disease-Mineral Bone Disorder

Seifert

Hruska

2016

Transplantation

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The last 25 years have been characterized by dramatic improvements in short-term patient and allograft survival after kidney transplantation. Long-term patient and allograft survival remains limited by cardiovascular disease and chronic allograft injury, among other factors. Cardiovascular disease remains a significant contributor to mortality in native chronic kidney disease as well, as cardiovascular mortality in chronic kidney disease more than doubles that of the general population. The chronic kidney disease-mineral bone disorder (CKD-MBD) is a syndrome recently coined to embody the biochemical, skeletal, and cardiovascular pathophysiology that results from disrupting the complex systems biology between the kidney, skeleton, and cardiovascular system in native and transplant kidney disease. The CKD-MBD is a unique kidney disease-specific syndrome containing novel cardiovascular risk factors, with an impact reaching far beyond traditional notions of renal osteodystrophy and hyperparathyroidism. This Overview reviews current knowledge of the pathophysiology of the CKD-MBD, including emerging concepts surrounding the importance of circulating pathogenic factors released from the injured kidney that directly cause cardiovascular disease in native and transplant chronic kidney disease, with potential application to mechanisms of chronic allograft injury and vasculopathy.

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Section: Application Of Emerging Concepts In the Ckd-mbd To Kidney Trmentioning

confidence: 84%

The Kidney-Vascular-Bone Axis in the Chronic Kidney Disease-Mineral Bone Disorder

Seifert

Hruska

2016

Transplantation

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“…There may be significant variability of presentation within families [317], and 10-20% of renal cases will be accompanied by involvement of other organs, mostly eyes, brain, liver and skeletal system [18]. Clinical suspicion for NPHP should be high in patients with:…”

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

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

Gupta

Ozimek-Kulik

Phillips

2021

Genes

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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.

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Clinical Scenarios in Chronic Kidney Disease: Cystic Renal Diseases

Meola¹,

Samoni²,

Petrucci³

2016

Contributions to Nephrology

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Cysts are frequently found in chronic kidney disease (CKD) and they have a different prognostic significance depending on the clinical context. Simple solitary parenchymal cysts and peripelvic cysts are very common and they have no clinical significance. At US, simple cyst appears as a round anechoic pouch with regular and thin profiles. On the other hand, hereditary polycystic disease is a frequent cause of CKD in children and adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the best known cystic hereditary diseases. ADPKD and ARPKD show a diffused cystic degeneration with cysts of different diameters derived from tubular epithelium. Medullary cystic disease may be associated with tubular defects, acidosis and lithiasis and can lead to CKD. Acquired cystic kidney disease, finally, is secondary to progressive structural end-stage kidney remodelling and may be associated with renal cell carcinoma.

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Working Out Nephronophthisis Genetics One Family at a Time

Cited by 3 publications

References 16 publications

The Kidney-Vascular-Bone Axis in the Chronic Kidney Disease-Mineral Bone Disorder

The Kidney-Vascular-Bone Axis in the Chronic Kidney Disease-Mineral Bone Disorder

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

Clinical Scenarios in Chronic Kidney Disease: Cystic Renal Diseases

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