Ferah Sönmez

Clinical outcome in children with Henoch-Schönlein nephritis

Henoch-Schönlein purpura (HSP) is the most common vasculitis in childhood. The long-term prognosis is variable and depends on renal involvement. The aim of this study was to evaluate both clinical features of the children with HSP and the prognoses of short- and long-term outcome of patients diagnosed as HSP nephritis (HSN). This is a retrospective data study of all children with HSP hospitalized from January 1991 to December 2005. The patients with HSN were classified according to their initial presentation, histologic findings, type of treatment and clinical outcome. All patients have been evaluated once every 2 months. Fifty-three of the patients had kidney biopsies. The patient population consisted of 141 children included 78 boys (55.3%) and 63 girls (44.7%) ranging in age at disease onset from 2 to 17 (8.9±3.29) years. Renal involvement was determined in 58.1%. Nephrotic and/or nephritic syndrome were found to be an unfavorable predictor both for short and long-term outcome (P<0.05). However, 35% of these patients and 62% of them showed complete remission after 6 months and long-term course. Overall prognosis of HSN is relatively good and long-term morbidity is predominantly associated with initial presentation and renal involvement.

Henoch-Schönlein nephritis: a nationwide study.

Background/Aim: The aim of this retrospective study was to evaluate the presentation, clinical and pathological manifestations and outcome of the Henoch-Schönlein purpura (HSP) nephritis in children. Methods: Clinical and laboratory data of 443 children with HSP nephritis aged between 3 and 16 years from 16 pediatric nephrology reference centers were analyzed retrospectively. The biopsy findings were graded according to the classification developed by the International Study of Kidney Disease in Children (ISKDC). Results: Renal biopsy was performed in 179 of the patients with HSP nephritis. The most common presenting clinical finding in patients who were biopsied was nephrotic range proteinuria (25%) which was followed by nephritic-nephrotic syndrome (23.5%). The biopsy findings according to the ISKDC were as follows: class I: 8.3%; II: 44.1%; III: 36.3%; IV: 6.7%; V: 3.3%; VI: 1.1%. All of the patients who developed end-stage renal disease had nephritic-nephrotic syndrome at presentation. Of 443 patients, 87.2% had a favorable outcome and 12.8% had an unfavorable outcome. The overall percentage of children who developed end-stage renal disease at follow-up was 1.1%. Logistic regression analysis did not show any association of initial symptoms and histology with outcome. Conclusion: In the presented cohort, the presence of crescents in the first biopsy or presenting clinical findings did not seem to predict the outcome of HSP nephritis in children. We conclude that children with HSP nephritis even with isolated microscopic hematuria and/or mild proteinuria should be followed closely.

Lead exposure and urinary N-acetyl β D glucosaminidase activity in adolescent workers in auto repair workshops

PURPOSE To investigate levels of lead (Pb) exposure and renal tubular damage among adolescent workers in auto repair workshops in Turkey. METHODS The study was conducted on 39 adolescent workers (mean age: 16.18 +/- 3.19 years) in auto repair workshops (8 autoelectrician, 10 motor repairman, 8 auto painter, 5 turner, 8 bonnet straighter). Thirteen adult employees of battery production in the workshops (mean age: 32.08 +/- 10.94 years) and 29 healthy rural adolescent (mean age: 14.78 +/- 2.68 years) constituted the control groups. The level of blood Pb was investigated by an atomic absorption spectrophotometer and urinary N-acetyl beta- D glucosaminidase (NAG) activity was measured by a colorimetric method. Mann-Whitney U test was performed to examine group differences. RESULTS All subjects and controls had normal blood urea, creatinine, uric acid, sodium, potassium levels, normal routine urine examination and tubular phosphorus reabsorption. Blood Pb levels in auto repair workers (8.13 +/- 7.41 mug/dL) were significantly higher than the rural control group (3.49 +/- 1.39 mug/dL) but lower than the battery workers (25.27 +/- 9.82 mug/dL). Urinary NAG (U/gr creatinine) (4.71 +/- 2.11) was lower than the battery workers (7.39 +/- 4.37), however significantly higher than the normal control group (3.07 +/- 1.20). In addition, auto painters had higher levels of Pb exposure and urinary NAG activity than the other workers (p <.05). CONCLUSION Chronic low dose Pb exposure was found to cause renal tubular injury in children workers of auto repair workshops.

Epididymoorchitis mimicking testicular torsion in Henoch-Schönlein purpura

Abstract. Henoch-Schönlein purpura, although being a systemic vasculitis, mostly involves skin, gastrointestinal system, joints, and kidneys. Testicular involvement is a rare occurrence. A 7-year-old boy with Henoch-Schönlein purpura developed acute scrotum and was referred to rule out testicular torsion. On gray-scale ultrasonography, the testes and epididymis were slightly enlarged, and had heterogeneous and hypoechoic echotexture. The scrotal wall was thickened as well. Color and power Doppler ultrasonography revealed increased vascularity in scrotal contents. Testicular torsion was excluded and the diagnosis of testicular involvement of Henoch-Schönlein purpura was established. Color Doppler US, together with gray-scale findings, can be useful in the evaluation of Henoch-Schönlein purpura with acute scrotum, excluding testicular torsion and preventing unnecessary surgery.

Potential prophylactic use of benzodiazepines for hemodialysis-associated seizures

Hemodialysis-associated seizure (HAS) is a common complication of hemodialysis. The efficiency of anticonvulsant drugs in treating or preventing seizures is poorly defined. In this study, children on long-term hemodialysis were examined for HAS and the effect of diazepam prophylaxis on HAS was investigated. Nine patients with a mean age of 14.1±2.8 years had HAS and 4 with a mean age of 13.0±4.4 years had never experienced HAS. The patients with HAS had tonic-clonic seizures. Four patients had focal slow-wave paroxysms, especially in the parieto-occipital regions; 2 had subcortical epileptiform discharges by electroencephalography. No correlation was observed between HAS and patient age, primary disease, prior history of seizures, type of dialysis, duration of hemodialysis, anemia, hyperparathyroidism, and administration of erythropoietin. Hypertension due to hypervolemia may also play a role in the development of HAS. Five patients with HAS first treated with phenobarbital (PB) had recurrence of seizures. As a dialyzable antiepileptic PB may be associated with an increased risk for HAS. In a preliminary study, we gave diazepam as a prophylactic therapy to 4 patients with HAS. During 6 months of follow-up, these patients had no seizures. The number of HAS was significantly different between the groups receiving PB and diazepam (z=–2,58, P=0.009). In conclusion, administration of diazepam per os to patients with HAS may be of value for preventing recurrence of HAS.

Clinicopathologic correlations of Henoch–Schönlein nephritis in Turkish children

Abstract Background: In this study, 66 patients with Henoch–Schönlein nephritis (HSN) were investigated clinicopathologically.

Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population

Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations and to investigate the clinical characteristics and genotype–phenotype correlation in patients with FMF in Aydın, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed MEFVgene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The MEFV gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydın in which the distribution of MEFVgene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients.

Obesity and Its Diagnostic Methods in Turkish Children

OBJECTIVE The application of body mass index (BMI) for obesity classification in all population studies has been questioned by the scientific community. It has been found that the bioelectrical impedance analysis (BIA) is an accurate method for screening obesity. This study was conducted to evaluate the accuracies of BMI, skinfold thickness (SFT), leptin and BIA measurements in obesity classification and to find correlations between BIA and the other indicators for obesity. MATERIALS AND METHODS This case-control study included 178 children of whom 90 were in the obese group and 88 in the control group. The study measured BMI, SFT, leptin level and BIA-mediated body fat percentage (BIA BFP) in each child. RESULTS The BMIs, leptin levels, SFTs and BIA BFPs of children in the obese group were found to be higher than those in the control group (p<0.001). The measurement of BIA BFP strongly correlated with BMI, SFT and waist circumference, whereas BIA BFP measurement showed weak-moderate correlation with leptin level. CONCLUSION Bioelectrical impedance analysis was found to be an accurate measure of BFP in obesity. In addition, BIA may prevent the incorrect diagnosis of obesity as determined by BMI alone, especially in boys during the pubertal period.

Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation

Recent genetic studies have identifi ed four different causative genes for familial cases of nephrotic syndrome (NS): NPHS1 , NPHS2 and ACTN4 . A new gene locus of autosomal dominant focal segmental glomerulosclerosis (FSGS) has been mapped to chromosome 11q21-22. 1 – 5 NPHS2 , which was mapped to chromosome 1q25-31 and encodes podocin, causes autosomal recessive steroid-resistant nephrotic syndrome (SRNS). Podocytes are highly specialized cells located on the external side of the glomerular capillary walls. 6,7 Podocin is expressed in lipid rafts at the insertion of the slit diaphragm in podocytes and interacts with other membrane proteins such as nephrin, NEPH1 , CD2AP , and regulates protein fi ltration. 6,7

Lowe syndrome with anal atresia: A possible variant of OCRL?

Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, multisystem disorder characterized by congenital cataracts, mental retardation, hypotonia and renal tubular abnormalities. Enophthalmos, buphthalmos, glaucoma, miotic pupils, dental cysts, prominent forehead, protruding ears, cryptorchidism, and deafness are other clinical findings. 1,2 The OCRL syndrome is transmitted as an X-linked recessive trait. This disease is caused by mutations in the OCRL1 gene located on chromosome Xp25–26, such as premature terminations and deletions. The gene ( OCRL1 ) responsible for OCRL has been positionally cloned and shown to encode a phosphatidylinositol 4–5-bisphosphate (PtdIns[4,5]P2) 5phosphatase. 3,4 Ocular manifestations of OCRL are congenital cataracts, glaucoma, and posterior lentiglobus. Female carriers are reported to have fine peripheral cortical punctate lens opacities. 5 Initially, the renal abnormalities are like those of Fanconi syndrome but later, the glomerular filtration rate is impaired. Amino-aciduria, proteinuria, intermittent glucosuria, diminished tubular phosphate and potassium reabsorption, and proximal renal tubular acidosis are common. 2