Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF.

Introduction: Familial Mediterranean Fever (FMF) is the most common monogentic autoinflammatory disease. FMF results from mutations in MEFV, which lead to a pro-inflammatory state and increased production of Interleukin 1 beta subunit (IL-1b) by myeloid cells. Despite the overall positive results obtained with anti-IL-1 agents in FMF patients, little is known about the long-term growth impact of these drugs in the pediatric population.

Colchicine treatment can be discontinued in a selected group of pediatric FMF patients.

Objectives: Familial Mediterranean Fever (FMF) patients are required to adhere to a life-long treatment with colchicine, primarily for preventing amyloidosis. As some patients may be asymptomatic for long periods of time, it remains unclear whether it is possible to discontinue colchicine treatment in a selective group of patients. We aimed to identify predictive characteristics for a successful cessation of colchicine therapy.

[ROBOT ASSISTED PYELOPLASTY IN ADULTS WITH URETERO-PELVIC JUNCTION OBSTRUCTION (UPJO)].

Background: Robotic-pyeloplasty (RP) for uretero-pelvic-junction-obstruction (UPJO) has been performed in our institution since 2013.

Objectives: To summarize the outcomes of RP in adults over 18 years of age.

Methods: Adult RP cases have been prospectively documented.

Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever.

Objectives: FMF results from mutations in the Mediterranean fever (MEFV) gene. The p. E148Q protein alternation is one of the most frequent in the MEFV gene, yet the exact E148Q genotype-phenotype correlation remains unclear.