Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

Torra, Roser; Furlano, Mónica; Ortíz, Alberto; Ars, Elisabet

doi:10.1093/ckj/sfab056

Cited by 42 publications

(48 citation statements)

References 51 publications

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“…Published studies suggested the same pattern [24]. Inherited kidney diseases (IKDs) are considered as the foremost reasons for the initiation of CKD and are accounted for about 10-15% of kidney replacement therapies (KRT) in adults [30].…”

Section: Discussionmentioning

confidence: 91%

Chronic kidney disease and its health-related factors: a case-control study

et al. 2022

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Background Chronic kidney disease (CKD) is a non-communicable disease that includes a range of different physiological disorders that are associated with abnormal renal function and progressive decline in glomerular filtration rate (GFR). This study aimed to investigate the associations of several behavioral and health-related factors with CKD in Iranian patients. Methods A hospital-based case-control study was conducted on 700 participants (350 cases and 350 controls). Logistic regression was applied to measure the association between the selected factors and CKD. Results The mean age of cases and controls were 59.6 ± 12.4 and 58.9 ± 12.2 respectively (p = 0.827). The results of multiple logistic regression suggested that many factors including low birth weight (OR yes/no = 4.07, 95%CI: 1.76–9.37, P = 0.001), history of diabetes (OR yes/no = 3.57, 95%CI: 2.36–5.40, P = 0.001), history of kidney diseases (OR yes/no = 3.35, 95%CI: 2.21–5.00, P = 0.001) and history of chemotherapy (OR yes/no = 2.18, 95%CI: 1.12–4.23, P = 0.02) are associated with the risk of CKD. Conclusions The present study covered a large number of potential risk/ preventive factors altogether. The results highlighted the importance of collaborative monitoring of kidney function among patients with the above conditions.

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Section: Discussionmentioning

confidence: 91%

Chronic kidney disease and its health-related factors: a case-control study

et al. 2022

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“…Genomic medicine is increasingly promoting personalized approaches to define diagnostic trajectories of inherited kidney diseases [ 30 , 32 ]. In patients with salt-losing tubulopathies, precision medicine claims to build up strategies to cover diagnostic and phenotypic areas of uncertainty in order to inform treatment, prognosis and counseling.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome

Palazzo

Raglianti

Landini

et al. 2022

IJMS

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Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype–phenotype correlations have important implications in defining kidney and global outcomes. The aim of our study was to assess the diagnostic rate of whole-exome sequencing (WES) coupled with a bioinformatic analysis of copy number variations in a population of 63 patients with BS and GS from a single institution, and to explore genotype-phenotype correlations. We obtained a diagnostic yield of 86% (54/63 patients), allowing disease reclassification in about 14% of patients. Although some clinical and laboratory features were more commonly reported in patients with BS or GS, a significant overlap does exist, and age at onset, preterm birth, gestational age and nephro-calcinosis are frequently misleading. Finally, chronic kidney disease (CKD) occurs in about 30% of patients with BS or GS, suggesting that the long-term prognosis can be unfavorable. In our cohort the features associated with CKD were lower gestational age at birth and a molecular diagnosis of BS, especially BS type 1. The results of our study demonstrate that WES is useful in dealing with the phenotypic heterogeneity of these disorders, improving differential diagnosis and genotype-phenotype correlation.

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“…18 , 19 , 21 While PKD is the only inherited kidney disease usually reported by large registries, recent Madrid and Catalonian KRT registry data found all inherited kidney diseases combined as frequent as glomerulonephritis. 22 Inherited kidney diseases are frequently overlooked by physicians. Indeed, whole exome sequencing found monogenic kidney diseases in 9% of adult CKD, and in 17–34% of those with CKD of unknown cause.…”

Section: The Most Common Cause Of Ckd Is Unknown: the Need To Redefine The Ckd Etiology Landscapementioning

confidence: 99%

CKD: The burden of disease invisible to research funders

Ont¹

2022

Nefrología

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Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

Cited by 42 publications

References 51 publications

Chronic kidney disease and its health-related factors: a case-control study

Chronic kidney disease and its health-related factors: a case-control study

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome

CKD: The burden of disease invisible to research funders

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