Genetic analysis reveals hidden causes of chronic kidney disease in adults

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Chronic kidney illness (CKD) is highly prevalent among adults, affecting complete 800 cardinal individuals worldwide. Many of these patients yet require therapy to supplement aliases switch kidney functions, specified arsenic dialysis aliases kidney transplant. While astir CKD cases originate from lifestyle-related factors aliases diseases specified arsenic glucosuria and hypertension, nan underlying causes of CKD stay chartless for astir 1 successful each 10 group pinch end-stage renal failure. Could CKD successful these patients stem from latent, undiagnosed familial conditions? 

In a caller study published online connected 14 February 2024 successful Kidney International Reports, researchers from Tokyo Medical and Dental University (TMDU) successful Japan group retired to reply this mobility done a broad familial study of CKD patients. 

First, nan researchers acquired information from 1,164 patients who underwent dialysis successful 4 different clinics successful nan Kanagawa Prefecture during November 2019. From this multicenter cohort, nan researchers filtered retired adults who were complete 50 years old, since group astatine that property person a little incidence of inherited kidney diseases. They past filtered retired patients who had an evident origin for their CKD, leaving 90 adults pinch CKD of chartless root who had consented to familial testing. 

We conducted a broad study of 298 genes responsible for various inherited renal diseases utilizing next-generation sequencing. These included polycystic kidney disease, nephronophthisis-related ciliopathies, autosomal ascendant tubulointerstitial kidney disease, focal segmental glomerulosclerosis, Alport syndrome, and atypical hemolytic uremic syndrome."

Dr. Takuya Fujimaru, Lead Author

The results revealed that 10 of nan 90 patients (11% of nan last cohort) had pathogenic variants successful CKD-causing genes. Importantly, for these patients, nan objective test astatine nan clip of dialysis was incorrect. What was peculiarly noteworthy was that immoderate of nan hereditary renal diseases contemplated successful this study, specified arsenic Fabry's illness and Alport syndrome, could beryllium diagnosed and treated early connected to slow down aliases halt nan progression of CKD. 

On apical of these findings, nan researchers wished that 17 patients (18.9%) had familial variants of chartless value (VUS) pinch a precocious probability of pathological involvement. While nan narration betwixt these variants and kidney diseases is not clear, they should not beryllium ignored aliases taken lightly. "Although nan mentation of these VUS is presently unknown, immoderate of them whitethorn so beryllium responsible for CKD," remarks elder writer Dr. Takayasu Mori. "Thus, existent hereditary kidney diseases whitethorn underlie galore much cases than anticipated."

This study marks 1 of nan world's largest broad familial study of patients pinch end-stage renal nonaccomplishment utilizing objective data. As such, nan conclusions derived from nan results tin person important implications successful really CKD is diagnosed and managed successful adults. "When nan superior illness underlying a lawsuit of CKD is unknown, familial study could lead to meticulous test and due curen earlier nan illness progresses, which could hopefully consequence successful a alteration successful nan number of patients requiring dialysis," highlights elder writer Dr. Eisei Sohara. "Thus, proactive familial study is recommended for big patients without a definitive origin of CKD." 

Notably, this investigation group has been conducting familial analyses of hereditary kidney diseases since 2014, reaching complete 1,500 families. They person precocious revenge a patent for a caller familial study strategy for Japanese individuals, which would assistance successful correctly diagnosing cases of CKD. With immoderate luck, further efforts will pave nan measurement to a brighter early for group pinch inherited kidney diseases. 


Journal reference:

Fujimaru, T., et al. (2024). Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology. Kidney International Reports.