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Background. Herein we present our experience with abatacept in a patient diagnosed with primary focal segmental glomerulosclerosis (FSGS) and resistant to steroid and other immunosuppressives. Case. A 17-year-old girl was diagnosed with idiopathic nephrotic syndrome (NS) at the age of 8 years. Kidney biopsy was performed when she did not respond to 6-weeks of steroid (2mg/kg) therapy followed by three doses of pulse methylprednisolone (PMP) and considered as steroid resistant NS. The biopsy revealed focal segmental glomerulosclerosis (FSGS) and cyclophosphamide was added to the steroid treatment but the patient had no response. The genetic analysis revealed G34G/A318A compound homozygous synonym aminoacid variation in NPHS2 gene, thus all immunosuppressive regimes were stopped and she was put on supportive treatment. Throughout this period, she had nephrotic range of proteinuria, however serum albumin levels were >3g/dl. At the end of two years, the patient had NS with severe edema and hypoalbuminemia. When the genetic analysis was interpreted again, it was found to be consistent with a polymorphism rather than a mutation. Following 3 doses of PMP, oral steroid treatment was resumed and cyclosporine (CsA) was added to the treatment at the fifth year of follow up. However, she was unresponsive to CsA at the end of the first year as well as mycophenolate mofetil used for 12 months and rituximab used for 6 months, respectively. Then abatacept was instituted and proteinuria decreased below 1 gr/day and serum albumin levels increased to 3 g/dl at the end of 6 doses. Serum albumin levels remained stable in the following 7 months. Conclusion. Partial remission including the decrease in proteinuria and increase in albumin levels achieved in our patient encourages the usage of abatacept in patients who do not respond to multiple immunosuppressive therapies. [ABSTRACT FROM AUTHOR]

Background. Myalgia is one of the presenting symptoms of Familial Mediterranean Fever (FMF), which is reported at a rate of 27-39.6%. Recurrent fasciitis in those cases are extremely rare. We aimed to present a case with FMF having radiologically proven fasciitis. Case. An 11-year-old male patient with a diagnosis of FMF and M694V homozygote mutation, using colchicine regularly at a dose of 2 mg/day (0.08 mg/kg/day) for 4 years; was admitted to the hospital with severe pain and tenderness on the right calf. There were no accompanying symptoms like fever or abdominal pain. He described three similar episodes with pain and tenderness in left and right calves, which were not accompanied by fever in the last 6 months. The erythrocyte sedimentation rate and C-reactive protein levels were high and serum creatinine kinase was normal. The day after initiation of non-steroidal anti-inflammatory drug (NSAID), his complaints regressed. However, after a week, he again had a severe calf pain. Lower extremity arterial and venous doppler ultrasonography was normal. Increased peripheral signal intensity and fasciitis around the soleus muscle was defined in MRI. With NSAIDs, myalgia disappeared in a few days and acute phase reactants decreased within a week. In the follow up, canakinumab was prescribed due to febrile attacks as frequent as once a month and calf pain observed almost weekly. Thereafter, both febrile attacks and recurrent debilitating calf pain were completely ceased. Conclusion. There are three cases in the literature with fasciitis related myalgia. With this case, we wanted to emphasize fasciitis as a cause of FMF associated myalgia on MRI. In such cases MRI may be helpful to demonstrate fascial involvement. [ABSTRACT FROM AUTHOR]

This clinical study was designed to evaluate cor relation between monosymptomatic enuresis (MSE) and allergic diseases (asthma, allergic rhinitis, eczema, and food allergy) in pediatric patients. The study was conducted on 50 pediatric patients with a MSE clinic who were ≥7 years old and applied to two tertiary health institutions between November 2015 and June 2016. Fifty healthy children of similar age, who applied to pediatric outpatient clinics for various reasons, were included as the control group. A questionnaire questioning the presence of food allergy and enuresis in the family and also including the questions of International Study of Asthma and Allergies in Childhood (ISAAC) was distributed to the parents of the children included in the study. It was found that 52% of 100 children participating in the study were boys and 48% were girls and their mean age was 10.8±2.8 years. While allergic diseases accompanied 34% of the cases with enuresis, this rate was found as 12% in the control group (p<0.01). It was determined that the family history in terms of enuresis and atopy was at a higher rate in the study group (40% and 26%, respectively) and at a lower rate in the control group (2% and 6%, respectively) (p<0.01). It was observed that allergic diseases were more frequent in the cases with MSE at a statistically significant level compared to the group without enuresis. [ABSTRACT FROM AUTHOR]

Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades. Mutations in CLDN-16 and CLDN-19 genes are associated with disrupted magnesium handling in the thick ascending limp of Henle's loop. Patients with mutations in these genes share similar clinical features, and those with CLDN-19 gene mutations have ocular findings in addition. A 2-month-old boy, was admitted to our clinic with the complaints of upper respiratory tract infection. He was the first-born child of consanguineous parents. Laboratory findings revealed hypocalcemia and hypomagnesemia. Bilateral medullary nephrocalcinosis was detected on abdominal ultrasound. His ophthalmologic examination was unremarkable. With hypomagnesemia, hypercalciuria and nephrocalcinosis, the patient was considered to have FHHNC. Oral magnessium supplementation was initiated. Four years of follow-up has been completed uneventfully. When 6-days-old the brother of the case above was admitted with seizure. The patient was resistant to calcium and anticonvulsant drugs and the seizure activity could only be controlled after magnesium infusion. Biochemistry profile revealed hypocalcemia and hypomagnesemia. Urinary calcium extraction was 11 mg/kg/day. Medullary nephrocalcinosis was reported on renal ultrasound. His eye examination, echocardiography, transfontanel ultrasound and electroencephalography were normal. Due to the triad of hypomagnesemia, hypercalciuria and nephrocalcinosis, and the medical history of his elder brother, he was diagnosed with FHHNC. After correction of the electrolyte abnormalities, he was discharged from hospital and is currently being followedup without any problem. In this manuscript, we shared our experience about a novel homozygous mutation (W99C) in CLDN-16 gene causing FHHNC in a couple of Turkish siblings. [ABSTRACT FROM AUTHOR]

Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epilepsy syndrome which is characterized by acute onset of refractory status epilepticus following a febrile infection occurring in previously normal children. Despite the various treatment options that have been tried, exact treatment strategy is still undetermined. This is the first pediatric case of FIRES from Turkey which was successfully treated with intravenous immunoglobulin (IVIG). A previously healthy 8-year-old boy was referred to our hospital with a prediagnosis of status epilepticus and encephalitis. He presented with acute onset of convulsions and unconsciousness following fever and malaise lasting 7 days. On physical examination Glasgow coma scale was 12, his pupils were miotic. He had cafe–au-lait spots on his body. His fundus examination, cerebrospinal fluid findings and cranial magnetic resonance imaging did not reveal any abnormality. Results of comprehensive search for metabolic, toxicological, infectious and autoimmune etiologies were all negative. Generalized slowing was seen on the electroencephalography (EEG) of the patient indicating possible encephalopathy. The patient developed convulsive status epilepticus and was intubated on day 5. His seizures were controlled by continuous infusion of midazolam, thiopental and used for 4 days. Phenytoin, levetiracetam, topiramate were used simultaneously. IVIG was administered as an immunomodulator for refractory seizures on day-9. The patient was extubated on day 11. The diagnosis was made after a comprehensive negative search for central nervous system infection, autoimmune and metabolic diseases. At follow up it was learnt that he had had only two seizures in two years. Status epilepticus did not recur. Clinicians should keep in mind FIRES which is a diagnosis of exclusion especially in refractory status epilepticus. IVIG treatment could have a benefit in these patients. [ABSTRACT FROM AUTHOR]

Laundry detergent pods (LDPs) are a new, concentrated form of detergent covered by a membrane of polyvinyl alcohol or other water-soluble material. In contrast to traditional laundry detergents, the spectrum of responses to exposure to LDPs ranges from mild to life-threatening events. This is a case report of a 3-year-old male who ingested part of an LDP, leading to a depressed level of consciousness, upper airway obstruction, and severe respiratory distress. The patient required intubation and mechanical ventilation for 2 days before being discharged. This rare, severe clinical pattern demonstrates the potential toxicity of these laundry detergents. In the literature, few cases that required intubation and ventilation have been reported. To our knowledge, this is also the first case of LDP exposure reported from Turkey. [ABSTRACT FROM AUTHOR]

A rare cause of neonatal hypertension: Congenital Mesoblastic Nephroma (CMN) is a rare renal tumor in childhood and has been reported with palpable abdominal mass, hypertension, hematuria, polyuria and hypercalcemia. Histopathologically it has been classified into two histological types: classic and cellular. We present a 32-week gestation infant and his histopathology reports of cellular CMN presented with refractory hypertension. [ABSTRACT FROM AUTHOR]