case of Henoch-Schonlein purpura with P369S mutation in MEFV gene

Henoch-Schonlein purpura [HSP] is the most common vasculitis of childhood. HSP can affect multiple organs presenting with a characteristic rash in most of the patients. Familial Mediterranean Fever [FMF] is an inherited inflammatory disease common in mediterranean populations. HSP is the most common vasculitis seen in children with FMF. A 16 year old boy was referred with history of abdominal pain lasting for 20 days. He was hospitalized and had appendectomy. Due to the persistence of his abdominal pain after surgery he was admitted to our hospital. His physical examination showed palpable purpuric rashes symmetrically distributed on lower extremities. Abdominal examination revealed periumbilical tenderness. Laboratory tests showed elevated erythrocyte sedimentation rate, C-reactive protein and fibrinogen. Urinalysis revealed microscopic hematuria and severe proteinuria. The fecal occult blood testing was positive. Based on these clinic findings, the patient was diagnosed as HSP with renal, gastrointestinal tract and skin involvement. We performed DNA analysis in our patient because he had diagnosis of vasculitis with severe symptoms and found that he was carrying heterozygote P369S mutation. Our case is noteworthy as it indicates that it may be important not to overlook presence of FMF mutations in patients with a diagnosis of severe vasculitis

Growth impairment and nutritional status in children with chronic kidney disease

Malnutrition is closely linked to chronic kidney disease [CKD] in adult patients with poor outcome. But data on pediatric patients is inadequate. The aim of this study was to describe the prevalence of growth failure and malnutrition in pediatric CKD patients and explore the relationship of these parameters to each other and to other clinical parameters. This study included 42 patients and 29 healthy children matched for age and gender. Patients were classified firstly in age group and secondly in therapy modalities. Nutritional evaluations were performed according to the Kidney Disease Outcomes Quality Initiative guidelines, and we performed adjustments using values from children with the same chronological age as reference. In pubertal group, the mean height SDS was lower than in pre-pubertal period while it was higher than in early childhood [P=0.4 and P=0.03 respectively]. In all groups, 45% of patients had malnutrition: 20 patients on predialysis, 22 patients with end stage renal disease [14 on hemodialysis, and 8 on peritoneal dialysis]. The mean weight SDS was lower in end stage renal disease groups [P<0.001]. The height SDS was lower in end stage renal disease groups [P<0.001]. Growth failure and malnutrition remain a significant clinical problem as age and therapy modalities are dependent in children with CKD