Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF. In this retrospective cross-sectional study conducted with patients’ files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis. The mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3 %). Thirty-four of the patients (6.04 %) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5 %). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78 % and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4 %). Pericardial effusion was documented in the echocardiography of 10.9 % of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2 %), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation. The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed puberty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment outcomes of 17OHD patients. We evaluated six patients with 17OHD from five families at presentation and at follow up. Standard deviation score of all auxological measurements was calculated according to national data and karyotype status. CYP17A1 gene sequence alterations were investigated in all patients. The mean (±standard deviation) age of patients at presentation and follow-up time was 14.6±4.2 and 5.0±2.7 years respectively. Five patients were referred to us because of delayed puberty and primary amenorrhea and four for hypertension. One novel single nucleotide insertion leading to frame shift and another novel variant occurring at an ultra rare position, leading to a missense change, are reported, both of which caused 17OHD deficiency. Steroid replacement was started. The three patients with 46,XY karyotype who were raised as females underwent gonadectomy. Osteoporosis was detected in five patients. Four patients needed antihypertensive treatment. Improvement in osteoporosis was noted with gonadal steroid replacement and supportive therapy. 17OHD, a rare cause of CAH, should be kept in mind in patients with pubertal delay and/or hypertension. Patients with 46,XY who are raised as females require gonadectomy. Due to late diagnosis, psychological problems, gender selection, hypertension and osteoporosis are important health problems affecting a high proportion of these patients.

Background: Pediatric intensive care units (PICUs), where children with critical illnesses are treated, require considerable manpower and technological infrastructure in order to keep children alive and free from sequelae. Methods: In this retrospective comparative cohort study, hospital records of patients aged 1 month to 18 years who died in the study PICU between January 2015 and December 2019 were reviewed. Results: A total of 2,781 critically ill children were admitted to the PICU. The mean±standard deviation age of 254 nonsurvivors was 64.34±69.48 months. The mean PICU length of stay was 17 days (range, 1–205 days), with 40 children dying early (<1 day of PICU admission). The majority of nonsurvivors (83.9%) had comorbid illnesses. Children with early mortality were more likely to have neurological findings (62.5%), hypotension (82.5%), oliguria (47.5%), acidosis (92.5%), coagulopathy (30.0%), and cardiac arrest (45.0%) and less likely to have terminal illnesses (52.5%) and chronic illnesses (75.6%). Children who died early had a higher mean age (81.8 months) and Pediatric Risk of Mortality (PRISM) III score (37). In children who died early, the first three signs during ICU admission were hypoglycemia in 68.5%, neurological symptoms in 43.5%, and acidosis in 78.3%. Sixty-seven patients needed continuous renal replacement therapy, 51 required extracorporeal membrane oxygenation support, and 10 underwent extracorporeal cardiopulmonary resuscitation. Conclusions: We found that rates of neurological findings, hypotension, oliguria, acidosis, coagulation disorder, and cardiac arrest and PRISM III scores were higher in children who died early compared to those who died later.

Background Multisystem inflammatory syndrome in children (MIS-C) is characterized by persistent fever, abdominal pain, vomiting, diarrhea, rash, conjunctivitis, headaches, and mucocutaneous manifestations and it can cause circulatory dysfunction, resulting in hypotension, shock, and end-organ injury in the heart and other organs and possibly death. In this study, we aimed to analyze the clinical spectrum, treatment options and outcomes of children with MIS-C who were admitted to our pediatric intensive care (PICU). Materials and Methods Clinical and laboratory findings and treatment of the patients admitted to the PICU with MIS-C between April 2020 and January 2021 were recorded, and their outcomes were evaluated. Results Nineteen patients with a median age of 12.5 years (interquartile range (IQR): 5.8–14.0 years) were admitted. Eleven (57.8%) were males. The most frequent clinical and laboratory features were fever (100%), abdominal pain (94.7%), rash (63.1%), headache (68.4%), diarrhea (47.3%), seizure (10.5%), cardiac dysfunction (52.6%), acute kidney injury (26.3%), lymphopenia (84.2%), and thrombocytopenia (36.8%). However, 8 patients needed mechanical respiratory support, 11 patients needed inotropes, 2 patients needed plasma exchange, and 1 patient needed continuous renal replacement therapy. All patients received corticosteroids, 17 patients (89.2%) received intravenous immunoglobulin, 2 patients received anakinra, 10 patients received acetylsalicylic acid, and 6 patients received enoxaparin. Median PICU length of stay was 3 days (IQR: 2–5) and only one patient died. Conclusion In conclusion, MIS-C may present with a variety of clinical manifestations, and it can lead to life-threatening critical illness. Most children need intensive care and the response to immunomodulation is usually favorable.