Glomerulocystic kidney disease

A 47-year-old female patient of Afghan origin, with a history of hypertension and depression, was addressed to the general nephrology clinic of Geneva University Hospital in august 2021, with uncontrollable hypertension and a suspected diagnosis of cystic kidney disease. She presented with persistent hypertension under a 2-drug regimen consisting of perindopril and amlodipine. An abdominal computed tomography without contrast, performed in 2019 for suspected symptomatic kidney stone disease, revealed multiple cysts in both kidneys. Family history was positive for a brother on hemodialysis for end-stage kidney disease of unknown etiology in Afghanistan. On referral, the patient was asymptomatic with an unremarkable physical examination. Biological workup revealed the creatinine level of 68 μmol/l (estimated glomerular filtration rate of 108 ml/min per 1.73 m2 Chronic Kidney Disease Epidemiology Collaboration). The complete blood count and the routine serum chemistry were normal. Urinalysis was unremarkable. Whole exome sequencing was performed, followed by a targeted bioinformatic analysis of a panel of genes involved in cystic kidney diseases (https://panelapp.genomicsengland.co.uk/panels/283/). Variant filtering and classification was performed based on the guidelines for the interpretation of sequence variants from the American College of Medical Genetics and Genomics. No pathogenic or likely pathogenic variants were found.