Research Project

Project Title:

Solitary Functioning Kidney: Aetiology and Prognosis (SOFIA)

Project Type:

Observational Study, Enrolment terminated
Adjunct biobank: DNA, Urine

Disease group(s):

Congenital Malformations & Ciliopathies

Project Summary:

Congenital solitary functioning kidney (SFK) affects ~1 in 2,000 children. Given the observed familial clustering, congenital SFK is most likely a multifactorial disorder. Children can also acquire an SFK after unilateral nephrectomy. Children with either form of SFK are frequently monitored
because up to 50% of affected children may have progressive renal disease, ultimately ending in endstage renal disease. In the SOFIA Project, we aim to improve guidance of SFK patients and their families by:
1. Improving information about causal factors for congenital SFK.
2. Predicting which children with an SFK will develop renal injury later in life.
3. Identifying biomarkers for early detection of renal injury in SFK.
Children with an SFK were recruited in >30 hospitals throughout the Netherlands. From these patients, DNA, information on environmental exposures before and during pregnancy, and clinical information was gathered

Lead principal investigator(s):

Michiel Schreuder, Nijmegen
Loes Zanden van der , Nijmegen


Wout Feitz, Nijmegen
Nel Roeleveld, Nijmegen

Project Period:

06/2018   -   06/2022


Local resources

Project web page:

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