4.4 Review

Genetic causes of proteinuria and nephrotic syndrome: Impact on podocyte pathobiology

Journal

PEDIATRIC NEPHROLOGY
Volume 30, Issue 2, Pages 221-233

Publisher

SPRINGER
DOI: 10.1007/s00467-014-2753-3

Keywords

Focal segmental glomerulosclerosis; Nephrotic syndrome; Steroid resistant nephrotic syndrome; Genetic mutation; Podocyte signaling

Funding

  1. NIH
  2. NIH NIDDK [K08-DK091507]

Ask authors/readers for more resources

In the past 20 years, multiple genetic mutations have been identified in patients with congenital nephrotic syndrome (CNS) and both familial and sporadic focal segmental glomerulosclerosis (FSGS). Characterization of the genetic basis of CNS and FSGS has led to the recognition of the importance of podocyte injury to the development of glomerulosclerosis. Genetic mutations induce injury due to effects on the podocyte's structure, actin cytoskeleton, calcium signaling, and lysosomal and mitochondrial function. Transgenic animal studies have contributed to our understanding of podocyte pathobiology. Podocyte endoplasmic reticulum stress response, cell polarity, and autophagy play a role in maintenance of podocyte health. Further investigations related to the effects of genetic mutations on podocytes may identify new pathways for targeting therapeutics for nephrotic syndrome.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.4
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

Article Urology & Nephrology

Partitioning-Defective 1a/b Depletion Impairs Glomerular and Proximal Tubule Development

Oleh Akchurin, Zhongfang Du, Nadira Ramkellawan, Vidhi Dalal, Seung Hyeok Han, James Pullman, Anne Musch, Katalin Susztak, Kimberly J. Reidy

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)

Article Urology & Nephrology

Approach to growth hormone therapy in children with chronic kidney disease varies across North America: the Midwest Pediatric Nephrology Consortium report

Oleh M. Akchurin, Amy J. Kogon, Juhi Kumar, Christine B. Sethna, Hoda T. Hammad, Paul J. Christos, John D. Mahan, Larry A. Greenbaum, Robert Woroniecki

BMC NEPHROLOGY (2017)

Article Pediatrics

Chronic Kidney Disease and Dietary Measures to Improve Outcomes

Oleh M. Akchurin

PEDIATRIC CLINICS OF NORTH AMERICA (2019)

Article Urology & Nephrology

Carbonyl iron and iron dextran therapies cause adverse effects on bone health in juveniles with chronic kidney disease

Edwin Patino, Stephen B. Doty, Divya Bhatia, Kelly Meza, Yuan-Shan Zhu, Stefano Rivella, Mary E. Choi, Oleh Akchurin

KIDNEY INTERNATIONAL (2020)

Letter Urology & Nephrology

Characteristics of Acute Kidney Injury in Hospitalized COVID-19 Patients in an Urban Academic Medical Center

John R. Lee, Jeffrey Silberzweig, Oleh Akchurin, Mary E. Choi, Vesh Srivatana, Jonathan Lin, Frank Liu, Line Malha, Michelle Lubetzky, Darshana M. Dadhania, Divya Shankaranarayanan, Daniil Shimonov, Sanjay Neupane, Thalia Salinas, Aarti Bhasin, Elly Varma, Lorenz Leuprecht, Supriya Gerardine, Perola Lamba, Parag Goyal, Eric Caliendo, Victoria Tiase, Rahul Sharma, Joel C. Park, Peter A. D. Steel, Manikkam Suthanthiran, Yiye Zhang

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)

Article Pediatrics

Tumor necrosis factor-alpha is associated with mineral bone disorder and growth impairment in children with chronic kidney disease

Kelly Meza, Sharmi Biswas, Yuan-Shan Zhu, Anuradha Gajjar, Eduardo Perelstein, Juhi Kumar, Oleh Akchurin

Summary: The study found that TNF-alpha in pediatric CKD is positively associated with biomarkers of CKD-MBD and negatively associated with height Z-score, indicating that inflammation may contribute to the development of CKD-MBD and growth impairment in this population.

PEDIATRIC NEPHROLOGY (2021)

Review Pediatrics

Erythropoiesis-independent effects of iron in chronic kidney disease

Edwin Patino, Oleh Akchurin

Summary: Chronic kidney disease causes alterations in iron metabolism, leading to anemia and the need for iron supplementation. Therapeutic iron supplementation has pleiotropic effects on various organ systems in CKD patients, beyond traditional hematologic effects. The effects of iron supplementation depend on the administration route and the specific iron preparation used.

PEDIATRIC NEPHROLOGY (2022)

Article Physiology

Skeletal muscle single fiber force production declines early in juvenile male mice with chronic kidney disease

Brent A. Momb, Edwin Patino, Oleh M. Akchurin, Mark S. Miller

Summary: Children with chronic kidney disease (CKD) often experience delayed physical development and reduced physical performance, possibly due to skeletal muscle dysfunction. However, the cellular and molecular mechanisms underlying skeletal muscle impairment in juvenile CKD are still poorly understood.

PHYSIOLOGICAL REPORTS (2023)

Article Pediatrics

Response to oral iron therapy in children with anemia of chronic kidney disease

Kelly Meza, Sharmi Biswas, Chantal Talmor, Kanza Baqai, Dmitry Samsonov, Sonia Solomon, Oleh Akchurin

Summary: Around 30% of children with chronic kidney disease do not respond to oral iron therapy for anemia. The severity of anemia at baseline is correlated with treatment response, suggesting the need for further studies to improve iron therapy outcomes and identify predictors of treatment response in children with anemia of CKD.

PEDIATRIC NEPHROLOGY (2023)

Article Urology & Nephrology

Iron Supplementation Improves Skeletal Muscle Contractile Properties in Mice with CKD

Brent A. Momb, Edwin Patino, Oleh M. Akchurin, Mark S. Miller

Summary: Patients with chronic kidney disease (CKD) often have compromised physical performance. In this study, it was found that untreated CKD led to a significant reduction in skeletal muscle force production, which was not solely due to muscle mass loss. Iron supplementation may help improve CKD-induced myopathy.

KIDNEY360 (2022)

Article Urology & Nephrology

COVID-19 in Patients with CKD in New York City

Oleh Akchurin, Kelly Meza, Sharmi Biswas, Michaela Greenbaum, Alexandra P. Licona-Freudenstein, Parag Goyal, Justin J. Choi, Mary E. Choi

Summary: Patients with CKD are at higher risk of in-hospital mortality due to COVID-19, especially in elderly populations. Acute-on-chronic kidney injury increases the likelihood of in-hospital death in patients with CKD hospitalized with COVID-19.

KIDNEY360 (2021)

Article Medicine, Research & Experimental

Mitophagy-dependent macrophage reprogramming protects against kidney fibrosis

Divya Bhatia, Kuei-Pin Chung, Kiichi Nakahira, Edwin Patino, Michelle C. Rice, Lisa K. Torres, Thangamani Muthukumar, Augustine M. K. Choi, Oleh M. Akchurin, Mary E. Choi

JCI INSIGHT (2019)

Article Urology & Nephrology

Interleukin-6 Contributes to the Development of Anemia in Juvenile CKD

Oleh Akchurin, Edwin Patino, Vidhi Dalal, Kelly Meza, Divya Bhatia, Simon Brovender, Yuan-Shan Zhu, Susanna Cunningham-Rundles, Eduardo Perelstein, Juhi Kumar, Stefano Rivella, Mary E. Choi

KIDNEY INTERNATIONAL REPORTS (2019)

Article Medicine, Research & Experimental

RIPK3 promotes sepsis-induced acute kidney injury via mitochondrial dysfunction

Angara Sureshbabu, Edwin Patino, Kevin C. Ma, Kristian Laursen, Eli J. Finkelsztein, Oleh Akchurin, Thangamani Muthukumar, Stefan W. Ryter, Lorraine Gudas, Augustine M. K. Choi, Mary E. Choi

JCI INSIGHT (2018)

Article Physiology

Lack of hepcidin ameliorates anemia and improves growth in an adenine-induced mouse model of chronic kidney disease

Oleh Akchurin, Angara Sureshbabu, Steve B. Doty, Yuan-Shan Zhu, Edwin Patino, Susanna Cunningham-Rundles, Mary E. Choi, Adele Boskey, Stefano Rivella

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2016)

No Data Available