Selçuk Yüksel

Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limited attacks of fever and polyserositis. Reactive amyloid A amyloidosis is the most devastating complication of FMF, and amyloidosis continues to occur in the colchicine era in untreated and noncompliant patients. Unfortunately, there is no proven effective treatment for established amyloidosis. In this report, we present four FMF-related amyloidosis patients that were treated with long term infliximab therapy with the longest duration of follow-up, together with the literature review. Infliximab was very effective in controlling gastrointestinal system findings and protracted arthritis, and it also had a favorable impact on the clinical findings of nephrotic syndrome in these patients. In conclusion, by controlling debilitating complaints of amyloidosis with infliximab, quality of life increases in these patients, and they get rid of recurrent hospitalizations and return to school or work.

Efficacy of magnetic resonance urography in detecting renal scars in children with vesicoureteral reflux

BackgroundThe detection of renal scars is of paramount importance for optimal clinical management of patients with urinary tract infection (UTI) and vesicoureteral reflux (VUR). The aim of our study was to compare the efficacy of unenhanced magnetic resonance urography (MRU) and Tc-99m dimercaptosuccinic acid (Tc-DMSA) scintigraphy to dectect renal scars.MethodsUnenhanced MRU and Tc-DMSA scintigraphy were performed in 49 children (10 boys, 39 girls; mean age 7.4u2009±u20094.2 years, range 1–15xa0years) with documented VUR. MR imaging scans were obtained within 7xa0days after voiding cystourethrogram (VCUG) and Tc-DMSA scintigraphy. The diagnostic performance of MRU in renal scar detection was calculated relative to that of the Tc-DMSA scan.ResultsThe renal scar detection rate of Tc-DMSA scintigraphy and unenhanced MRU in kidneys with VUR was 32.4 and 25.9xa0%, respectively. The sensitivity and specificity of MRU in the detection of renal scars was 80 and 82.6xa0% in kidneys with VUR, respectively. There was no statistically significant difference in lesion detection between MRU and Tc-DMSA scintigraphy (Pu2009>u20090.05). MRU and Tc-DMSA scintigraphy showed good agreement (κu2009=u20090.60).ConclusionsUnenhanced MRU is a robust technique for the morphologic assessment of the urinary system and detection of renal scars. The lack of radiation and contrast material makes this technique a much safer alternative to scintigraphy in children with VUR, particularly in those who require follow-up scanning and, consequently, considerable radiation exposure.

First-Line, Early and Long-Term Eculizumab Therapy in Atypical Hemolytic Uremic Syndrome: A Case Series in Pediatric Patients

IntroductionStudies relating to first-line, early, and long-term eculizumab treatment and outcomes in children with atypical hemolytic uremic syndrome (aHUS) are scarce and unclear. The aim of this case-series study was to evaluate the outcomes of first-line, early, and long-term eculizumab treatment in our aHUS patients.Materials and MethodsWe reviewed the data from four pediatric patients with aHUS who were treated with eculizumab. In three of them, eculizumab was used as a first-line therapy, and the follow-up period was ≥2xa0years in three patients.ResultsPlasma exchange could not be performed in any patient. Plasma infusions were used only in Patient 1 (a 14-month-old boy) for 8xa0days without any response. Therefore, eculizumab was started on day 11 after admission. Patient 2 (a 16-month-old boy), Patient 3 (an 11-year-old girl), and Patient 4 (a 32-month-old girl) were treated with eculizumab as a first-line therapy, which was started 2–4xa0days after admission. The dosage of eculizumab was adjusted according to body weight. The hematologic parameters (the time frames were 3–17xa0days) and C3 (the time frames were 10–17xa0days) returned to normal in all patients after receipt of eculizumab. Although Patient 1 developed stage III chronic kidney disease, complete renal recovery occurred in Patients 2 and 4. Patient 3 also had reflux nephropathy with bilateral grade III vesicoureteral reflux and renal scars. Her creatinine clearance returned to the baseline value after receiving eculizumab. No complications related to eculizumab were observed in any patient during the follow-up period.ConclusionEculizumab can be successfully used as a first-line therapy in pediatric aHUS patients. We observed that the early initiation of eculizumab was associated with the complete recovery of renal function.

Evaluation of lower urinary tract dysfunction in Turkish primary schoolchildren: An epidemiological study

OBJECTIVEnThe aim was to determine the prevalence of voiding dysfunction and its related risk factors in Turkish schoolchildren.nnnMATERIALS AND METHODSnA randomly selected, cross-sectional study was conducted using a self-administered and previously validated questionnaire. The questionnaire consisted of two parts. The first part included personal demographic and familial information, and the second part included the Dysfunctional Voiding and Incontinence Scoring System (DVISS). The questionnaires were given to 4668 children between 6 and 15 years of age, which were completed by the parents and children together. The children with a score of ≥9 were accepted as having lower urinary tract dysfunction (LUTD).nnnRESULTSnThe data were collected from 4016 children (the response rate was 86.0%), including 48.6% boys and 51.4% girls. The mean age was 10.5±2.2 years. The overall frequency of LUTD was 9.3%. While the 6-year-old children had the highest frequency (23.1%) of LUTD, this rate was 7.9% at the age of 10, and the children aged 14 years had the lowest frequency (4.9%), (p<0.001). Lower urinary tract symptoms were significantly more common in girls (7.6%) than in boys (3.2%) only for the older age group (between 12 and 15 years of age). Compared with normal children, those with LUTD (with a score of ≥9) had the following risk factors: less educated parents, a parent that had lower urinary tract symptoms when he or she was a child, more persons per room (≥2 persons), more siblings (≥4 siblings) at home, past medical history of urinary tract infections, and squatting position (in girls).nnnCONCLUSIONSnLower urinary tract problems are one of the most important and ongoing health problems in childhood. Determining the prevalence of lower urinary tract problems in children and their related risk factors is the first step to managing and reducing the number of children suffering from voiding problems.

Diffusion weighted magnetic resonance imaging of kidneys in children with vesicoureteral reflux

PURPOSEnThe apparent diffusion coefficient (ADC) which obtain from diffusion-weighted magnetic resonance imaging (DWI), is a quantitative parameter representing the renal function and parenchymal damage in some renal disorders. The primary aim of this study was to investigate whether renal tissue alterations associated with vesicoureteral reflux (VUR) can be displayed by DWI. The secondary aim was to assess how ADC values change with age in kidneys with and without VUR.nnnMATERIALS AND METHODSnThis prospective study included 46 patients (8 boys, 38 girls; mean age 7.3 ± 4.2; range 1-15 years) with VUR and 54 control subjects (21 boys, 33 girls; mean age 7.7 ± 5.2; range 1-17 years). All subjects underwent DWI of the kidneys using b value of 600s/mm(2) in addition to MR urography. The ADC values of 71 kidneys with VUR were compared with those of 81 kidneys without VUR.nnnRESULTSnThe mean ADC values were (1.93 ± 0.36)×10(-3)mm(2)/s, (1.97 ± 0.24)× 10(-3)mm(2)/s, (1.83 ± 0.37)× 10(-3)mm(2)/s, (1.98 ± 0.20)×10(-3)mm(2)/s and (2.08 ± 0.42)× 10(-3)mm(2)/s in normal kidneys, and in those with grade 1, grade 2, grade 3 and grade 4 VUR, respectively. There was no significant difference in ADC values between kidneys with and without VUR. There was a significant positive correlation between the age and ADC values both in kidneys with and without VUR (r=0.79, p<0.001 and r=0.82; p<0.001, respectively).nnnCONCLUSIONnDWI does not reveal probable parenchymal alterations in reflux nephropathy. ADC values increase with age during childhood not only in normal kidneys but also in kidneys with VUR.

The value of procalcitonin measurements in children with familial Mediterranean fever

It is well known that the serum procalcitonin (PCT) levels increase in severe bacterial infections. However, there is little information about the levels of PCT in diverse diseases except mainly the infectious diseases. The aim of this study was to investigate the progress of serum levels of PCT together with traditional acute phase reactants in children with familial Mediterranean fever (FMF) during the attack and attack-free periods and to test whether PCT could help to diagnose the attack in FMF patients. The study group comprised 21 FMF patients (mean age 10xa0±xa04.6xa0years) and 19 healthy controls (mean age 10.6xa0±xa04.2xa0years). Serum levels of PCT and traditional acute phase reactants were measured during the attack and attack-free periods. Blood samples were obtained within the first 6–24xa0h of the attack period, 7xa0days later, and at least 2xa0months after the attack. Traditional acute phase reactants (hs-CRP, ESR, and fibrinogen) during the attack period were significantly higher than the attack-free levels and controls. PCT levels of the FMF patients during the attack period were also significantly higher than the attack-free and control group levels (median values, 0.044xa0ng/ml vs. 0.028xa0ng/ml and 0.031xa0ng/ml, Pxa0=xa00.04, respectively). Although this difference was statistically significant (Pxa0=xa00.04), median PCT values of the attack, attack-free period, and healthy subjects were lower than 0.05xa0ng/ml. As a result, these findings suggested that PCT levels were not conspicuously affected from inflammation and could not be used as a descriptive marker for attack in FMF patients.

Could serum pentraxin 3 levels and IgM deposition in skin biopsies predict subsequent renal involvement in children with Henoch–Schönlein purpura?

BackgroundThe aim of this study was to evaluate the potential of serum pentraxin 3 (PTX3) values as an early predictor of subsequent renal involvement in patients with Henoch–Schönlein purpura (HSP) with no abnormalities on urinary examination and in renal function tests at disease onset.MethodsThis was a prospective cohort study which included 60 pediatric patients with HSP (age range 3–15 years) who were diagnosed between February 2011 and October 2012 and 60 age- and sex-matched healthy controls. The patients were followed up for at least 18xa0months. Clinical findings were recorded for all patients at first examination, and blood samples for routine laboratory parameters and PTX3 value as well as skin biopsy specimens were obtained from each subject.ResultsOf the 60 patients with HSP, 29 (48.3xa0%) developed subsequent renal involvement, of whom four underwent kidney biopsy. The mean serum PTX3 level of patients with subsequent renal involvement was significantly higher than those of patients without renal involvement and of the controls (2.20u2009±u20091.30 vs. 1.36u2009±u20090.85 and 1.03u2009±u20090.7xa0ng/ml, respectively; pu2009=u20090.004). Immunofluorescence evaluation of skin biopsy revealed that in addition to immunoglobulin A (IgA) deposition, the IgM deposition was significantly associated with subsequent renal involvement (pu2009=u20090.008).ConclusionsA high PTX3 level and IgM staining in skin biopsies from HSP patients may be harbingers of subsequent renal involvement.

Eosinophilic granulomatosis with polyangiitis without respiratory symptoms or asthma in an adolescent: case report and literature review

Eosinophilic granulomatosis with polyangiitis (EGPA), also known as Churg–Strauss syndrome, is a systemic necrotizing vasculitis of the small and medium vessels. It is primarily associated with respiratory conditions such as asthma and sinusitis as well as eosinophilia, neuropathy, pulmonary infiltrates, and vasculitis. EGPA is extremely rare in the pediatric age group, and respiratory system disorders are usually predominant in EGPA patients. A 14-year-old boy presented with rash and severe extremity pain. He had eosinophilia, and electroneuromyography demonstrated sensorimotor polyneuropathy. His skin biopsy revealed necrotizing eosinophilic vasculitis and eosinophilic panniculitis. Although he had no respiratory symptoms or history of asthma, prominent pulmonary involvement was evident on thoracic MRI. After treatment, his complaints of pain improved but mild neuropathy persisted. After 4xa0years of follow-up, he had minimal hypoesthesia in his right hand but had not experienced any relapses. This case highlights the fact that in cases suspected of EGPA, even without respiratory symptoms or asthma, detailed imaging should be performed for a definitive diagnosis. In addition, mild neurological findings may persist despite treatment in EGPA. The relevant literature on EGPA, with specific reference to pediatric cases, is reviewed.

Could pentraxin-3 be a new marker for subclinical inflammation in familial Mediterranean fever?

Pentraxin-3 (PTX-3) is a long pentraxin that is structurally related to the short pentraxins as C-reactive protein (CRP). It is known to play an important role in innate immunity and inflammatory regulation. CRP and serum amyloid A (SAA) are sensitive and reliable markers of inflammation in FMF attack as well as chronic and subclinical inflammation during attack-free period. To date, there is no information about PTX-3 in FMF inflammation.

Acquired angioedema in juvenile systemic lupus erythematosus: case-based review

An acquired form of angioedema that is clinically similar but scarcer than the hereditary form may be caused, even more rarely, by the presence of an underlying autoimmune disease. We report a previously healthy 16-year-old girl with an acquired angioedema as a rare and initial presentation of systemic lupus erythematosus. The patient had no previous angioedema attack and no family history. She did not have any chronic diseases and did not use any medicine regularly. The patient was diagnosed with systemic lupus erythematosus with the presence of polyarthralgia, angioedema, leucopenia, and positivity of immunologic criteria. Her edema resolved with high-dose methylprednisolone and hydroxychloroquine slowly. In conclusion, new-onset angioedema in adolescent girls should be investigated to evaluate autoimmunity and the possibility of systemic lupus erythematosus. The related literature on acquired angioedema associated with systemic lupus erythematosus is also reviewed.