Archive | 2021
Low prevalence of hypertension in children with renal cysts and diabetes syndrome is the hallmark of the disease
Abstract
\n Cystic kidney diseases such as autosomal recessive or dominant polycystic kidney disease (ARPKD and ADPKD) are associated with high prevalence of arterial hypertension. On the contrary, studies on hypertension in children with renal cysts and diabetes (RCAD) syndrome caused by abnormalities in the HNF1B gene are rare. Therefore, the aim of our study was to investigate the prevalence of hypertension in children with RCAD syndrome due to HNF1B gene abnormalities and to search for possible risk factors for development of hypertension. Data on all children with genetically proven RCAD syndrome from three pediatric nephrology tertiary centers were retrospectively reviewed (office blood pressure (BP), ambulatory blood pressure monitoring (ABPM), creatinine clearance, renal ultrasound, echocardiography, albuminuria/proteinuria). Hypertension was defined using the current ESH 2016 criteria and/or by the use of antihypertensive drugs. Thirty-two children with RCAD syndrome were investigated. Three children received ACE-inhibitors for hypertension and/or proteinuria. Hypertension was diagnosed using office BP in 22% of the children (n\u2009=\u20097) In the 7 performed ABPM 1 child (14%) was diagnosed with hypertension. Creatinine clearance, proteinuria, albuminuria, body mass index, enlargement or hypodysplasia of the kidneys and prevalence of HNF1B-gene deletion or mutation were not significantly different between hypertensive and normotensive children. Conclusion: Hypertension is rare in children with RCAD syndrome. The low prevalence of hypertension seems to be the hallmark of the disease.