Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene

Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications

Relationship of MPV, coagulation parameters, and genetic results with the inflammatory process in patients with FMF children

Relationship of MPV, coagulation parameters, and genetic results with the inflammatory process in patients with FMF children</p

İki aylık bir dönemde pediatrik poliklinik hastalarının idrar örneklerinden izole edilen GSBL oluşturan Escherichia coli ve Klebsiella suşları.

Bu &ccedil;al&rsaquo;flmada, iki ayl&rsaquo;k bir s&uuml;rede &lsaquo;stanbul T&rsaquo;p Fak&uuml;ltesi Pediatrik Nefroloji Bilim Dal&rsaquo;&rsquo;nda ayaktan takip edilen &ccedil;ocuk hastalar&rsaquo; n idrar &ouml;rneklerinden izole edilen genifllemifl spektrumlu beta-laktamaz (GSBL) oluflturan Esherichia coli (n=11) ve Klebsiella spp. (n=4) sufllar&rsaquo; incelenmifltir. T&uuml;m sufllar karbapenemlere duyarl&rsaquo; bulunmufl ve &ldquo;E-test ESBL&rdquo; ile GSBL fenotipi g&ouml;sterilmifltir. Polimeraz zincir reaksiyonu (PCR) sonu&ccedil;lar&rsaquo;na g&ouml;re, E.coli sufllar&rsaquo;n&rsaquo;n dokuzunun (% 82) TEM-tipi, ikisinin (% 18) CTX-M-tipi beta-laktamaz &uuml;retti&curren;i bulunmufltur. K.pneumoniae sufllar&rsaquo;n&rsaquo;n (n=2) hem TEM, hem de SHV-tipi beta-laktamaz &uuml;retti&curren;i, K.oxytoca sufllar&rsaquo;ndan (n=2) ise sadece birinin TEM tipi beta-laktamaz &uuml;retti&curren;i saptanm&rsaquo;fl, ikinci K.oxytoca suflunun TEM, SHV, CTX-M&rsquo;den baflka bir beta-laktamaz tafl&rsaquo;d&rsaquo;&curren;&rsaquo; anlafl&rsaquo;lm&rsaquo;flt&rsaquo;r. ERIC-2 primeri kullan&rsaquo;larak yap&rsaquo;lan RAPD-PCR ile sufllar&rsaquo;n, b&uuml;y&uuml;kl&uuml;kleri 170-1500 bp aras&rsaquo;nda de&curren;iflen &ccedil;eflitli bantlar i&ccedil;erdi&curren;i bulunmufltur. RAPD-PCR deneylerine g&ouml;re iki K.pneumoniae ve iki K.oxytoca suflunun birbiriyle ayn&rsaquo; profile sahip oldu&curren;u bulunmufltur. Konjugasyon deneylerinde 15 suflun 10&rsquo;u (% 67) diren&ccedil;lerini al&rsaquo;c&rsaquo; E.coli sufluna aktarm&rsaquo;flt&rsaquo;r. Plazmid profil analizi, t&uuml;m sufllar&rsaquo;n birden fazla plazmide sahip oldu&curren;unu g&ouml;stermifltir. Sufllardaki plazmidlerin 48 kb&rsquo;dan b&uuml;y&uuml;k oldu&curren;u bulunmufltur. Sonu&ccedil; olarak, k&rsaquo;sa bir s&uuml;rede poliklinik hastalar&rsaquo;ndan &ccedil;ok say&rsaquo;da GSBL pozitif suflun izole edilmesi, RAPD-PCR ve plazmid analizi sonu&ccedil;lar&rsaquo;na g&ouml;re sufllar&rsaquo;n b&uuml;y&uuml;k bir k&rsaquo;sm&rsaquo;n&rsaquo;n tafl&rsaquo;d&rsaquo;&curren;&rsaquo; enzimler bak&rsaquo;m&rsaquo;ndan benzerlik g&ouml;stermesi, izole edilen sufllar&rsaquo;n iliflkili olduklar&rsaquo;n&rsaquo; d&uuml;fl&uuml;nd&uuml;rmekle birlikte, sufllar&rsaquo;n izole edildi&curren;i hastalar aras&rsaquo;nda bir iliflkiye rastlanmam&rsaquo; flt&rsaquo;r. Ancak hastalarda mesane disfonksiyonu tan&rsaquo;s&rsaquo;n&rsaquo;n &ccedil;oklu&curren;u, mesane disfonksiyonunun GSBL oluflturan bakterilerle kolonizasyon i&ccedil;in bir risk fakt&ouml;r&uuml; olabilece&curren;ini d&uuml;fl&uuml;nd&uuml;rm&uuml;flt&uuml;r

Evaluation of Cognitive Functions in Children with Chronic Kidney Disease

Objectives: The aim of our study is to evaluate the cognitive functions of the children with chronic kidney disease (CKD) and to identify the factors influencing on these cognitive functions. Fifty-seven children with various stages of CKD following up in three pediatric nephrology centers were enrolled in this multicentric study. Mean age was 12±2.57 years.Methods: Initial information about the patients was obtained from hospital records and their parents. WISC-R and CNS Vital Signs tests were performed by a certified psychologist to evaluate cognitive functions of the patients. Mental retardation (MR) was defined as Intelligence quotient (IQ) level lower than 70 according to WISC-R test. The patients who have IQ level between 71-84 were classified as “borderline mental capacity”. Statistical analyses were performed with SPSS 21 software. Results: IQ level was normal only in 14 (24.6%) children in our study group. Fourteen (24.6%) patients had a “borderline mental capacity”, 29 (50.8%) patients had mild and moderate MR. IQ level was not found to be related to the stage of CKD (p=0.085). MR was more frequent in the patients with anemia and also history of small for gestational age (p=0.029 and p=0.033; respectively). IQ level of the patients were positively correlated with education level of their mothers (r=0.330 p=0.012).All of special cognitive functions were affected negatively except verbal memory. The percentage of the affected patients was 76.8% in cognitive flexibility, 69.6% in composite memory, 69.6% in neurocognition index, 66% in executive function and 60.7% in psychomotor speed. The duration of CKD, history of small for gestational age and especially maternal education level were found to be related to poor cognitive functions (p&lt;0.05). Conclusion: IQ level and other cognitive functions were affected in the children with CKD. Maternal education level is one of the most important factors influencing IQ level and cognitive functions of these children

Rituximab treatment for difficult-to-treat nephrotic syndrome in children: A multicenter, retrospective study

Background/aim: This study aimed to evaluate the efficacy of rituximab in children with difficult-to-treat nephrotic syndrome, considering the type of disease (steroid-sensitive or -resistant) and the dosing regimen. Materials and methods: This multicenter retrospective study enrolled children with difficult-to-treat nephrotic syndrome on rituximab treatment from 13 centers. The patients were classified based on low (single dose of 375 mg/m(2)) or high (2-4 doses of 375 mg/m(2)) initial dose of rituximab and the steroid response. Clinical outcomes were compared. Results: Data from 42 children [20 steroid-sensitive (frequent relapsing / steroid-dependent) and 22 steroid-resistant nephrotic syndrome, aged 1.9-17.3 years] were analyzed. Eleven patients with steroid-sensitive nephrotic syndrome (55%) had a relapse following initial rituximab therapy, with the mean time to first relapse of 8.4 +/- 5.2 months. Complete remission was achieved in 41% and 36% of steroid-resistant patients, with the median remission time of 3.65 months. At Year 2, eight patients in steroid-sensitive group (40%) and four in steroid-resistant group (18%) were drug-free. Total cumulative doses of rituximab were higher in steroid-resistant group (p = 001). Relapse rates and time to first relapse in steroid-sensitive group or remission rates in steroid-resistant group did not differ between the low and high initial dose groups. Conclusion: The current study reveals that rituximab therapy may provide a lower relapse rate and prolonged relapse-free survival in the steroid-sensitive group, increased remission rates in the steroid-resistant group, and a significant number of drug-free patients in both groups. The optimal regimen for initial treatment and maintenance needs to be determined