The term differences of sex development (DSDs; also known as disorders of sex
development) refers to a heterogeneous group of congenital conditions affecting human sex …

A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT),
hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

We investigated the value of genetic, histopathologic, and early treatment response
information in prognosing long-term renal outcome in children with primary steroid-resistant …

Developing synchronous bilateral Wilms tumor suggests an underlying (epi) genetic
predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or …

Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders characterized
by nephrotic-range proteinuria, hypoalbuminaemia and oedema, which manifest in utero or …

Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease
in childhood and has a significant risk of rapid progression to end-stage renal disease. The …

Background Rare genetic conditions are frequent risk factors for, or direct causes of,
paediatric intensive care unit (PICU) admission. Such conditions are frequently suspected …

It is paramount that any child or adolescent with a suspected difference or disorder of sex
development (DSD) is assessed by an experienced clinician with adequate knowledge …

Background: Steroid resistant nephrotic syndrome (SRNS) is a rare condition, accounting for
10–15% of all children with idiopathic nephrotic syndrome. SRNS can be caused by genetic …