ABSTRACT
BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal-recessive auto-inflammatory disorder characterized by recurrent episodes of fever with serositis. Sacroiliitis associated with FMF is very rare, especially in children. We aimed to describe the demographic, clinical, laboratory features, and treatment responses of pediatric patients with FMF -related sacroiliitis. METHODS: The study consisted of seven pediatric patients younger than 16 years, diagnosed with sacroiliitis associated with FMF between 2010 and 2017. Medical records of patients were retrospectively evaluated. Sacroiliitis was diagnosed based on magnetic resonance imaging. We also reviewed previous studies of FMF related sacroiliitis. RESULTS: Five of the seven patients (male:female ratio of 5:2) had a M694V (homozygous) mutation, one patient had a M694V (heterozygous) mutation, and one patient had a V726A (heterozygous) mutation. All patients were HLA-B27 negative. One of the cases achieved remission with colchicine plus non-steroidal anti-inflammatory drug treatment, and one patient`s symptoms were managed by the addition of sulfasalazine. Four patients responded to etanercept treatment, and one patient`s symptoms were suppressed with canakinumab. CONCLUSION: Sacroiliitis can be seen in pediatric FMF patients suffering with inflammatory back pain. This manifestation generally occurs in FMF patients who have M694V mutation. Etanercept could likely show a beneficial effect in patients who are resistant to disease modifying anti-rheumatic drugs and non-steroidal anti-inflammatory drugs. In addition, canakinumab treatment should be considered as a successful alternative therapy in this rare group of patients.
Subject(s)
Familial Mediterranean Fever , Sacroiliitis , Child , Colchicine/therapeutic use , Familial Mediterranean Fever/complications , Familial Mediterranean Fever/diagnosis , Familial Mediterranean Fever/drug therapy , Female , Homozygote , Humans , Male , Mutation , Pyrin/genetics , Retrospective Studies , Sacroiliitis/diagnosis , Sacroiliitis/drug therapy , Sacroiliitis/etiologyABSTRACT
BACKGROUND/AIM: In nonmonosymptomatic nocturnal enuresis (NMNE), the incidence of organic abnormality and urodynamic disorder is more frequent than the general population. The aim of this study is to identify urodynamic disorders and renal scarring in children with NMNE. MATERIALS AND METHODS: This study evaluated the urodynamic disorders and renal scarring of a total of 30 patients who were diagnosed with NMNE. A video-urodynamic test and Tc-99m dimercaptosuccinic acid renal scintigraphy were applied. RESULTS: Records of 605 patients who had been diagnosed with enuresis were analyzed, and 215 (33.5%) of them had been diagnosed with NMNE. Thirty patients older than 6 years old with NMNE were included in the study. Detrusor overactivity was identified in 10 patients. Bladder capacity was low in 5 patients and bladder compliance was low in 2 patients. Renal scarring was identified in 1 patient. Unilateral vesicoureteral reflux was found in 4 patients. CONCLUSION: Bladder function disorder is also a significant risk factor for the development of renal scarring, besides other risk factors. Organic abnormalities are seen more often in patients with NMNE than patients with monosymptomatic nocturnal enuresis, so urodynamic studies should be remembered for patients with NMNE.
