Background: We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4).
Case Presentation: He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20. We searched the literature and confirmed that this mutation site has not been reported by any other group before.
Conclusions: Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151052 | PMC |
| http://dx.doi.org/10.1186/s12882-018-1044-9 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cardiac Biomarkers in a Brazilian Indigenous Population Exposed to Arboviruses: A Cross-Sectional Study.
Viruses
December 2024
Faculty of Medicine, Federal University of Vale do São Francisco-UNIVASF, Petrolina 56304-917, PE, Brazil.
Arthropod-borne viral diseases are acute febrile illnesses, sometimes with chronic effects, that can be debilitating and even fatal worldwide, affecting particularly vulnerable populations. Indigenous communities face not only the burden of these acute febrile illnesses, but also the cardiovascular complications that are worsened by urbanization. A cross-sectional study was conducted in an Indigenous population in the Northeast Region of Brazil to explore the association between arboviral infections (dengue, chikungunya, and Zika) and cardiac biomarkers, including cardiotrophin 1, growth differentiation factor 15, lactate dehydrogenase B, fatty-acid-binding protein 3, myoglobin, N-terminal pro-B-type natriuretic peptide, cardiac troponin I, big endothelin 1, and creatine kinase-MB, along with clinical and anthropometric factors.
View Article and Find Full Text PDFThe Association Between Cytomegalovirus Infection and Kidney Damage in the Liver Transplant Setting.
Viruses
November 2024
Department of Surgery, Campus Virchow Klinikum and Campus Charité Mitte, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Introduction: The development of chronic kidney disease (CKD) is a common and significant complication, contributing to morbidity after liver transplantation (LT). Cytomegalovirus (CMV) infection is common in the overall population, and relevant reinfection after LT may occur. CMV-associated kidney damage has been discussed, but the clinical significance on CKD development after LT remains unclear.
View Article and Find Full Text PDFAccounting for the Structure-Property Relationship of Hollow-Fiber Membranes in Modeling Hemodialyzer Clearance.
Polymers (Basel)
December 2024
Membrane Institute, Kuban State University, 149, Stavropolskaya Str., 350040 Krasnodar, Russia.
The relevance of the hemodialysis procedure is increasing worldwide due to the growing number of patients suffering from chronic kidney disease. Taking into account the structure of dialysis polymer membranes is an important aspect in their development to achieve the required performance of hemodialyzers. We propose a new mathematical model of mass transfer that allows hollow-fiber membrane structural parameters to be taken into account in simulating the clearance () of hemodialyzers in a way that does not require difficult to achieve close approximation to the exact geometry of the membrane porous structure.
View Article and Find Full Text PDFShort-Term Effects of NO Exposure on Hospitalization for Chronic Kidney Disease.
Toxics
December 2024
Medical Center for Neck and Low Back Pain, Xijing Hospital, Fourth Military Medical University, Xi'an 710000, China.
This study investigates the correlation between short-term exposure to nitrogen dioxide (NO) and hospitalization for chronic kidney disease (CKD) in Lanzhou, China. A distributed lag nonlinear model (DLNM) was employed to examine the relationship between changes in NO concentration and CKD hospitalizations. Subgroup analyses were conducted to assess the sensitivity of different populations to NO exposure.
View Article and Find Full Text PDFPortable SpectroChip-Based Immunoassay Platform for Rapid and Accurate Melamine Quantification in Urine Samples.
Toxics
November 2024
Research Center for Environmental Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
Growing concerns about the health risks of melamine adulteration in food products highlight the urgent need for reliable detection methods. However, the long-term effects of chronic low-level melamine exposure remain inadequately explored. This study introduces THE ONE InstantCare platform, a portable immunoassay analyzer integrating a SpectroChip-based spectral processing unit (SPU) with lateral flow immunoassay (LFIA) for sensitive and accurate quantification of melamine in human urine.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!