Gene Panel Detects Inherited Cystic and Glomerular Kidney Diseases

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A new kidney disease gene panel provides a comprehensive, cost-effective tool for genetic diagnosis of patients with cystic and glomerular inherited kidney diseases, reports a clinical investigation in Kidney International.

The researchers developed and evaluated a kidney disease panel consisting of 140 genes having causal or other associations with cystic and glomerular inherited kidney diseases. The study included a validation cohort of 116 patients with known mutations and a diagnostic cohort of 305 patients: 207 with suspected inherited cystic disease and 98 with glomerular disease.

In the validation cohort, 134 of 135 previously known mutations were identified by targeted next-generation sequencing using the kidney disease panel, for a sensitivity of 99%. In the diagnostic cohort, the panel identified causative mutations in 78% of patients with inherited cystic kidney diseases and 62% with glomerular diseases. Rates of familial cases were 44% in patients with cystic diseases and 81% in those with glomerular diseases.

Copy number variants were detected in about 10% of diagnosed cases. Fifteen percent of patients had an unspecified clinical diagnosis at referral, while 2% had an inaccurate diagnosis. The costs of sequencing using the kidney disease gene panel were 50% to 70% lower than with other genetic testing approaches.

Molecular diagnosis of inherited kidney disease poses a difficult challenge. The new study validates the 140-gene kidney disease panel as a noninvasive, cost-effective tool for diagnosis of cystic and glomerular inherited kidney diseases. This approach leads to an etiologic diagnosis in three-fourths of cases; the authors find it particularly valuable in patients with nonspecific or atypical phenotypes [Bullich G, et al. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney Int 2018; 94:363–371].