The aim of this prospective, multicenter study was to define the etiology and clinical features of acute kidney injury (AKI) in a pediatric patient cohort and to determine prognostic factors. Pediatric-modified RIFLE (pRIFLE) criteria were used to classify AKI. The patient cohort comprised 472 pediatric patients (264 males, 208 females), of whom 32.6% were newborns (median age 3 days, range 1-24 days), and 67.4% were children aged >1 month (median 2.99 years, range 1 month-18 years). The most common medical conditions were prematurity (42.2%) and congenital heart disease (CHD, 11.7%) in newborns, and malignancy (12.9%) and CHD (12.3%) in children aged >1 month. Hypoxic/ischemic injury and sepsis were the leading causes of AKI in both age groups. Dialysis was performed in 30.3% of newborns and 33.6% of children aged >1 month. Mortality was higher in the newborns (42.6 vs. 27.9%; p < 0.005). Stepwise multiple regression analysis revealed the major independent risk factors to be mechanical ventilation [relative risk (RR) 17.31, 95% confidence interval (95% CI) 4.88-61.42], hypervolemia (RR 12.90, 95% CI 1.97-84.37), CHD (RR 9.85, 95% CI 2.08-46.60), and metabolic acidosis (RR 7.64, 95% CI 2.90-20.15) in newborns and mechanical ventilation (RR 8.73, 95% CI 3.95-19.29), hypoxia (RR 5.35, 95% CI 2.26-12.67), and intrinsic AKI (RR 4.91, 95% CI 2.04-11.78) in children aged >1 month.

Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. Turk J Pediatr 2017; 59: 434-441. Fanconi-Bickel syndrome (FBS) is a rare, autosomal recessive disorder of carbohydrate metabolism caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene. Prominent findings are failure to thrive, renal tubular acidosis, hypoglycemia and postprandial hyperglycemia even mimicking diabetes mellitus. Eight patients from 6 families with FBS were included in this study. c.482_483insC homozygous mutation was detected in six patients from four different families. Mutation analysis of SLC2A2 gene revealed two novel homozygous mutations; c.1069delGinsAATAA and c.575A > G. Standard oral glucose tolerance test with 1.75 g/kg oral glucose was performed in six of the patients who were older than 3-years of age. Impaired glucose tolerance was found in all patients as expected and two of them had overt diabetes. None of the antidiabetic medications were given to them in order to avoid significant hypoglycemia. Beside the conservative treatment, follow up with frequent oral glucose tolerance tests are planned. We report these cases of FBS, as GSD XI is rare, two novel mutations were detected and also to highlight the risk of diabetes mellitus; although there is not a consensus about the treatment.

Bardet Biedl syndrome (BBS), is a multisystemic disorder which is described as a ciliopathy. BBS is a rare autosomal recessive disorder and 21 different BBS genes have been defined to date. BBS is characterized with dysmorphic extremities, retinitis pigmentosa, obesity, hypogenitalism, intellectual disabilility and renal structural abnormalities. Renal symptoms in patients with BBS, are nonspecific and often undetected until end-stage renal disease. Here, we were reported 23 children with BBS (12 females, 11 males) with renal abnormalities from a single center and defined their features. Age at diagnosis were very variable (2 days-16 years). Median age at diagnosis was 84 months. Mean follow-up period was 42 months. All 23 children had urinary tract abnormalities on renal ultrasonography. These abnormalities were polycysts (34.8%), hyperechogenic kidneys (34.8%), fetal lobulation (21.7%), hypoplasia on at least one kidney (21.7%) and hydronephrosis in at least one kidney (17.4%). Vesicoureteral reflux and neurogenic bladder detected 11.1% and 22.2% of patients who recieved a voiding cystourethrogram, respectively. Proteinuria was found in 39 % of patients. Hypertension was defined in 21.7% of patients. Six of 23 children (26%) in our cohort had proven mutations in BBS genes. Five of them (83.3%) had homozygous mutations in BBS10 gene and one of them had homozygous mutation in BBS2 gene. All of 23 children had retinitis pigmentosa, twenty two of them (95.6%) had learning disabilities/cognitive impairment and seventeen of them (82.6%) had obesity. Renal involvement is now accepted as a cardinal feature and the most important factor causing mortality in BBS.

No abstract

Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood. It is inherited by an autosomal recessive manner through SLC12A3 gene mutations. Familial Mediterranean Fever (FMF) is the most common autoinflammatory disorder, inherited by an autosomal recessive manner and characterized by recurrent fever and pleuritis, peritonitis, and synovitis. Mutations in MEditerrenean FeVer (MEFV) gene, coding pyrin protein are responsible for FMF. Both MEFV and SCL12A3 genes were located on chromosome 16. A 9-year-old boy was admitted to our department because of recurrent abdominal pain, fever, joint pain and swelling since he was three years old. He was diagnosed as FMF and MEFV gene sequencing revealed homozygous M694V (c.2080A>G) mutation. At the age of 14 years, polyuria, polydipsia, hypokalemia and mild hypomagnesemia had occurred. Patient was successfully treated with oral supplementation of potassium and magnesium along with colchicine. Molecular genetic analysis including SCL12A3 gene sequencing revealed homozygote IVS4-16G>A (c.602-16G>A) intronic splicing site mutation.