scholarly journals Chronic kidney disease of unknown etiology and the effect of multiple-ion interactions

2017 ◽  
Vol 40 (2) ◽  
pp. 705-719 ◽  
Author(s):  
M. W. C. Dharma-wardana
2021 ◽  
Author(s):  
Roser Torra ◽  
Mónica Furlano ◽  
Alberto Ortiz ◽  
Elisabet Ars

Abstract Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney replacement therapy (KRT) in adults. Pediatric nephrologists are very aware of the high prevalence of IKDs among their patients, but this is not the case for adult nephrologists. Recent publications have demonstrated that monogenic diseases account for a significant percentage of adult cases of CKD. A substantial number of these patients have received a non-specific/incorrect diagnosis or a diagnosis of CKD of unknown etiology, which precludes correct treatment, follow-up and genetic counseling. There are a number of reasons why genetic kidney diseases are difficult to diagnose in adulthood: a) adult nephrologists, in general, are not knowledgeable about IKDs, b) existence of atypical phenotypes, c) genetic testing is not universally available, d) family history is not always available or may be negative, e) lack of knowledge of various genotype–phenotype relationships, f) conflicting interpretation of the pathogenicity of many sequence variants.


2021 ◽  
pp. 111779
Author(s):  
D.N.D. Liyanage ◽  
Saranga Diyabalanage ◽  
S.P. Dunuweera ◽  
Sanath Rajapakse ◽  
R.M.G. Rajapakse ◽  
...  

2021 ◽  
Vol 46 ◽  
pp. S692
Author(s):  
H.M. Abeywickrama ◽  
Y. Koyama ◽  
S. Wimalasiri ◽  
M. Uchiyama ◽  
U. Shimizu ◽  
...  

Author(s):  
Jörg Rapp ◽  
Engelbert Niehaus ◽  
Alexandre Ribó ◽  
Roberto Mejía ◽  
Edgar Quinteros ◽  
...  

2019 ◽  
Vol 0 (0) ◽  
pp. 0 ◽  
Author(s):  
YJ Anupama ◽  
Suresh Sankarasubbaiyan ◽  
Gangadhar Taduri

2020 ◽  
Vol 5 (2) ◽  
Author(s):  
Rachel Sippy ◽  
Martín Lotto ◽  
Abigail Bideaux ◽  
Irene Torres ◽  
Sriram Narsipur ◽  
...  

An increase of chronic kidney disease (CKD) has affected many tropical countries but with an atypical presentation. This illness, known as Chronic Kidney Disease of Unknown Etiology (CKDu), presents in younger adults without the typical comorbidities for CKD, often among those working in agricultural production. The cause of disease is unknown but temperature, heat stress, or dehydration are thought to contribute to the development of this condition. There is no information on whether anyone in Ecuador is affected by this illness. We describe CKD rates in Ecuador and hypothesize that CKD is impacted by temperature and the agricultural industry in Ecuador. Using publicly available data from the Instituto Nacional de Estadísticas y Censos from the years 2010—2015, we describe the rate of CKD among adults aged 20—45 in each province, as well as the agricultural industry across Ecuador. We combined this information with land surface temperature and used a Poisson mixed effects model to assess the relationship between mean temperature, maximum temperature and agricultural industry with CKD rates among adults aged 20—49 in each province. We found that the CKD rate is increasing in this age group over 2010—2015 (p=0.017), and in 2015, CKD rates were highest in Pastaza. Our spatial analysis found that both mean temperature and proportion of population in agriculture were positively associated with CKD rate by province in 2014 and 2015. This preliminary analysis shows that temperature and agricultural industry are associated with CKD rates among adults aged 20—49. While this association does not definitively show the presence of CKDu, it provides evidence to support further investigation of this illness in Ecuador.


2022 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ming Chang ◽  
Chih-Chia Chen ◽  
Ni-Chung Lee ◽  
Junne-Ming Sung ◽  
Yen-Yin Chou ◽  
...  

Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 related disorders may have been underestimated in past studies. With improved genetic sequencing techniques, more genetic abnormalities are being detected than ever before. Here, we report three patients from two families with PAX2 mutations identified within 1 year. Two patients were adults with chronic kidney disease and were followed for decades without correct diagnoses, including one with ESRD who had even undergone kidney transplant. The third patient was a neonate in whom PAX2-related disorder manifested as oligohydramnios, coloboma, and renal failure that progressed to ESRD within 1 year after birth. The phenotypes of PAX2 gene mutation were shown to be highly variable, even within the same family. Early detection promoted genetic counseling and guided clinical management. The appropriate time point for genetic study is an important issue. Clinicians must be more alert for PAX2 mutation when facing patients with congenital kidney and urinary tract anomalies, chronic kidney disease of unknown etiology, involvement of multiple systems, and/or a family history of renal disease.


Author(s):  
Nishantha Kumarasinghe

Background: The significant increase in the burden of chronic kidney disease of unknown etiology (CKDu) of Sri Lanka has led to evaluate the factors related to physical, social and mental aspects of health-related quality of life (HRQOL) in CKDu patients. Methods: The quality of life of 84 CKDu patients (stages 1-5) were assessed by means of the Kidney Disease Quality of Life Short-Form survey (KDQOL™-36) Version 1.3 along with biomarkers and patient demographics. The estimated glomerular filtration rate (eGFR) was calculated using the Modification of Diet in Renal Disease (MDRD) formula. Results: KDQOL™-36 scores impaired substantially across all stages of CKDu and comparatively lower scores were present in later stages of the disease than the initial stages. The mental composite summary (MCS) scores were more impaired when compared to physical composite summary (PCS) scores during the early stage of the disease. Poor KDQOL™-36 scores were present in males than in females with a significant difference in MCS and social support scales. Biochemical parameters showed a significant correlation with the majority of KDQOL™-36 dimensions while urine albumin to creatinine ratio did not. Conclusion: CKDu patients in any stage of the disease despite their age and gender have a significant physical and mental health burden. Thereby, early assessment of health-related quality of life will help to identify high-risk patients, and modifying these factors may provide a better active and healthy lifestyle.


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