Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations.

Background: Atypical haemolytic uremic syndrome (aHUS) is often associated with a high risk of disease recurrence and subsequent graft loss after isolated renal transplantation. Evidence-based recommendations for a mutation-based management after renal transplantation in aHUS caused by a combined mutation with complement factor I (CFI) and membrane cofactor protein CD46 (MCP) are limited.

Case-diagnosis/treatment: We describe a 9-year-old boy with a first manifestation of aHUS at the age of 9 months carrying combined heterozygous mutations in the CFI and MCP genes.

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.

Background: Autosomal recessive polycystic kidney disease (ARPKD) shows a great phenotypic variability between patients, ranging from perinatal demise to mildly affected adults. Autosomal dominant polycystic liver disease (PCLD) does not manifest in childhood.

Case-diagnosis/treatment: A boy was reported with the co-occurrence of ARPKD and PCLD.

Selective late steroid withdrawal after renal transplantation.

Steroid withdrawal (SW) after paediatric renal transplantation (RTPL) is controversial. Selective late SW has been performed in our unit since 1995. The safety and effects of SW were analysed retrospectively in 47 patients undergoing RTPL between 1995 and 2004.

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.

Renal tubular dysgenesis (RTD) is a clinical disorder either acquired during fetal development or inherited as an autosomal recessive condition. Inherited RTD is caused by mutations in the genes encoding the components of the renin-angiotensin system angiotensinogen, renin, angiotensin-converting enzyme and angiotensin II receptor type 1. Inherited RTD is characterized by early onset oligohydramnios, skull ossification defects, preterm birth and neonatal pulmonary and renal failure.