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1.
J Clin Rheumatol ; 2019 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-31693653

RESUMO

BACKGROUND/OBJECTIVE: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease and is characterized by recurrent fever and serositis episodes. We aimed to share our 20-year FMF experience, clarify a phenotype-genotype correlation, and compare the characteristics and outcomes of pediatric FMF patients over the last 2 decades in this study. METHODS: This medical record review study included 714 pediatric FMF patients (340 females, 374 males), diagnosed by Tel Hashomer diagnostic criteria between January 2009 and January 2019 and followed up in our department. Demographic and disease characteristics, obtained from medical records of the patients, were compared between patients with M694V homozygosity and other genotypes and showed whether they were diagnosed before (n = 137) or after January 2010 (n = 577). χ, Student t, and Mann-Whitney U tests were used to compare categorical and continuous variables between these groups. RESULTS: The most common symptoms were abdominal pain (92%), fever (89.5%), and arthralgia (64.5%). Mean ages at symptom onset and diagnosis were 5.16 ± 3.73 and 7.71 ± 3.87 years, respectively. M694V homozygosity was recorded in 111 patients (15.5%). Fever, arthralgia, arthritis, myalgia, erysipela-like erythema, colchicine resistance, and subclinical inflammation were more frequent, and mean disease severity score was higher in patients with M694V homozygosity. Fever, chest pain, and proteinuria were statistically more frequent in patients diagnosed before January 2010. Although M694V homozygosity rate was similar, patients diagnosed in the last decade had lower mean disease severity score. CONCLUSIONS: With this study, we speculate that although genotype and delay in diagnosis were similar, patients diagnosed in the last decade have a milder disease severity.

2.
Arch Rheumatol ; 34(3): 288-293, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31598594

RESUMO

Objectives: This study aims to analyze the growth parameters in children with familial Mediterranean fever (FMF) according to disease characteristics including genotype and disease severity by a recently validated tool in relatively more patients. Patients and methods: This retrospective study included 126 patients with FMF (70 males, 56 females; mean age 7.3±3.6 years; range, 4.1 to 18 years). MEditerranean FeVer (MEFV) gene analysis was performed with a molecular diagnostics tool by using a next-generation sequencing platform. Disease severity was determined for the first visit by the validated tool in children, international severity scoring system for FMF. Growth parameters including weight and height were investigated after standard deviation (SD) scores were calculated by anthropometric references in Turkish children. Results: Median follow-up duration was 74.7 months (range, 7.5 to 169 months). Ninety-three patients (73.8%) had at least one M694V mutation in MEFV gene. Six patients (4.8%) had severe disease, 58 (46%) had intermediate severity, and 62 (49.2%) had mild disease. Mean height SD score was significantly lower at last visit than before colchicine treatment. Initial and last height and weight SD scores were lower in patients with at least one M694V mutation than those without. However, the difference was statistically significant for only initial height SD score. We also found statistically significant lower initial height, final height, and weight SD scores in patients with intermediate severity-severe disease activity than mild disease. Conclusion: We advise physicians to score disease severity prospectively and pay attention to patients with intermediate severity-severe disease to avoid growth disturbances.

3.
Mod Rheumatol ; : 1-8, 2019 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-31662011

RESUMO

Objectives: Henoch Schönlein Purpura (HSP) is the most common systemic vasculitis in childhood. We aimed to evaluate the clinical features, seasonal variation, treatment outcomes and the possible predicting factors related to outcome among a large cohort of pediatric HSP patients.Methods: We conducted a medical record review study between July 2016 and January 2019 and evaluated the clinical manifestations and potential risk factors for severe gastrointestinal (GI) involvement, biopsy-proven nephritis and relapses.Results: The study included 420 HSP patients, of which the mean age at diagnosis was 7.68 ± 3.15 years. Clinical manifestations were arthralgia and/or arthritis (n = 244, 58.1%), abdominal pain (n = 235, 56%), subcutaneous edema (n = 163, 38.8%), and renal involvement (n = 125, 29.8%). Disease recurred for at least once, in 69 (16.4%) patients and colchicine treatment yielded a favorable response in 11 of 12 relapsing patients, who did not respond to ibuprofen or steroids. Frequencies of renal involvement and biopsy-proven nephritis were higher in patients with severe GI involvement. Besides, patients with biopsy-proven nephritis had higher rates of abdominal pain, intussusception, severe GI involvement, and systemic steroid administration.Conclusion: We speculate that renal involvement, biopsy-proven nephritis and severe GI involvement can be related to each other. Colchicine may be effective in patients with relapsing disease.

4.
Reumatologia ; 57(3): 182-187, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31462836

RESUMO

Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by malar rash, oral ulcers, arthralgia, photosensitivity and nephritis. Herein, we report a rare comorbidity, multiple avascular necrosis (AVN), in an adolescent SLE patient and also highlight the importance of risk factors for this comorbidity with a brief literature review. A 13-year-old female patient was admitted with severe headache, visual plus auditory hallucinations, polyarthritis and a history of recurrent oral ulcers. Acneiform malar rash, arthritis, cytopenia, low complement levels and autoantibody positivity yielded SLE diagnosis. We diagnosed her as having multifocal AVN after the 4th dose of cyclophosphamide, with bilateral knee pain and swelling and typical geographical lesions on magnetic resonance imaging. Avascular necrosis is a rare comorbidity of SLE and neuropsychiatric involvement, cyclophosphamide administration and severe disease may be the possible risk factors in addition to corticosteroid use. Further multicenter studies investigating the possible risk factors of AVN with a large number of patients are needed.

5.
Paediatr Drugs ; 21(5): 389-395, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31463794

RESUMO

INTRODUCTION: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by interleukin (IL)-1 overproduction. Colchicine is the mainstay drug in the treatment of FMF; however, a minority of patients do not respond despite the highest tolerated doses. We aimed to share our experience with canakinumab, a human monoclonal antibody against IL-1ß, in pediatric FMF patients. METHODS: This historical, single-cohort study retrospectively evaluated the disease characteristics, indications, and treatment responses of 14 pediatric FMF patients treated with canakinumab in our pediatric rheumatology department. RESULTS: The median age at onset and diagnosis of 14 FMF patients (9 females, 5 males), were 3.5 (range 0.5-10) years and 6 (range 3-16) years, respectively. Indications for canakinumab treatment were renal amyloidosis (n = 1), colchicine resistance (n = 11), and persistent arthritis (n = 2). Only two (14.3%) patients had colchicine intolerance. Complete response was obtained in 10/14 (71.5%) among all patients and 10/12 (86%) in patients with typical phenotype. The patient with chronic oligoarthritis had a complete response, whereas the patient with rheumatoid factor (RF)-positive polyarthritis demonstrated an initial partial response to canakinumab treatment. We found that attack frequency, proteinuria, and acute phase reactants, including erythrocyte sedimentation rate and C-reactive protein, were significantly decreased after canakinumab treatment in children with FMF. CONCLUSION: Canakinumab may be an effective treatment option for pediatric FMF patients with colchicine resistance, renal amyloidosis, and chronic oligoarthritis. Further studies are needed to clarify the efficacy of canakinumab in patients with a second disease, RF-positive polyarticular juvenile idiopathic arthritis.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Febre Familiar do Mediterrâneo/tratamento farmacológico , Interleucina-1beta/uso terapêutico , Adolescente , Anticorpos Monoclonais/farmacologia , Anticorpos Monoclonais Humanizados , Criança , Pré-Escolar , Estudos de Coortes , Febre Familiar do Mediterrâneo/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Interleucina-1beta/farmacologia , Masculino , Estudos Retrospectivos , Resultado do Tratamento
6.
J Allergy Clin Immunol Pract ; 7(8): 2790-2800.e15, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31238161

RESUMO

BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. The long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established. OBJECTIVE: To determine the clinical and immunologic features of LRBA deficiency and long-term efficacy of abatacept treatment in controlling the different disease manifestations. METHODS: Twenty-two LRBA-deficient patients were recruited from different immunology centers and followed prospectively. Eighteen patients on abatacept were evaluated every 3 months for long-term clinical and immunologic responses. LRBA expression, lymphocyte subpopulations, and circulating T follicular helper cells were determined by flow cytometry. RESULTS: The mean age of the patients was 13.4 ± 7.9 years, and the follow-up period was 3.4 ± 2.3 years. Recurrent infections (n = 19 [86.4%]), immune dysregulation (n = 18 [81.8%]), and lymphoproliferation (n = 16 [72.7%]) were common clinical features. The long-term benefits of abatacept in 16 patients were demonstrated by complete control of lymphoproliferation and chronic diarrhea followed by immune dysregulation, most notably autoimmune cytopenias. Weekly or every other week administration of abatacept gave better disease control compared with every 4 weeks. There were no serious side effects related to the abatacept therapy. Circulating T follicular helper cell frequencies were found to be a reliable biomarker of disease activity, which decreased on abatacept therapy in most subjects. However, high circulating T follicular helper cell frequencies persisted in 2 patients who had a more severe disease phenotype that was relatively resistant to abatacept therapy. CONCLUSIONS: Long-term abatacept therapy is effective in most patients with LRBA deficiency.

7.
Postgrad Med ; 131(4): 295-298, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31021301

RESUMO

Objectives: Henoch Schönlein Purpura (HSP) is the most common systemic vasculitis of childhood and often has a self-limiting course. We aimed to study whether practical laboratory parameters at the diagnosis predict disease course including recurrence and nephritis in addition to severe gastrointestinal involvement in children with HSP. Methods: This retrospective cohort study included 214 HSP patients, 43.5% (n = 93) female and 56.5% (n =121) male, who were diagnosed in our department. Laboratory parameters before treatment, including neutrophil, lymphocyte and platelet counts, mean platelet volume (MPV), neutrophil-to-lymphocyte (NLR), and platelet-to-lymphocyte ratios (PLR) were obtained retrospectively. Age at diagnosis, duration of follow-up, gender, preceding infections, medications, arthritis and arthralgia, abdominal pain, severe GI involvement, invagination, renal involvement and presence of nephritis, outcomes, and presence of recurrences were retrospectively recorded from medical files. Severe GI involvement was determined as severe colicky abdominal pain, bowel edema in ultrasonography or overt GI bleeding. A relapse was defined as a new flare of cutaneous lesions or other manifestations in a patient at least four asymptomatic weeks after the initial HSP episode. Results: Mean age at diagnosis was 7.6 ± 3.1 years. Biopsy-proven nephritis was found in 16 (7.5%) patients. Severe GI involvement was present in 77 (36%) patients, whereas only 12 (5.6%) patients were diagnosed with intussusception and in 29 (13.5%) patients, HSP recurred. Neutrophil count and NLR were found higher in HSP patients with severe gastrointestinal involvement and biopsy-proven nephritis. Additionally, only platelet count was lower and MPV was higher in patients with recurrent HSP. Conclusion: Elevated neutrophil count and NLR may be relevant markers for severe GI involvement and nephritis, whereas platelet count and MPV were the only laboratory parameters associated with disease recurrence.


Assuntos
Contagem de Células Sanguíneas/estatística & dados numéricos , Púrpura de Schoenlein-Henoch/sangue , Púrpura de Schoenlein-Henoch/complicações , Idade de Início , Biomarcadores , Criança , Comorbidade , Feminino , Gastroenteropatias/sangue , Gastroenteropatias/etiologia , Humanos , Masculino , Nefrite/sangue , Nefrite/etiologia , Prognóstico , Recidiva , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores Sexuais
8.
Scott Med J ; 64(3): 103-107, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30862258

RESUMO

Hyperimmunoglobulinaemia D syndrome is an autoinflammatory disease usually representing recurrent episodes of fever, arthralgia/arthritis, cervical lymphadenopathy, vomiting, diarrhoea, abdominal pain and skin rashes lasting 3-7 days every 4-8 weeks since their infancy. Recent reports suggested a link between perianal fistulae/abscess and severe colitis with hyperimmunoglobulinaemia D syndrome resembling an inflammatory bowel disease phenotype. Herein, we report an 18-month-old patient with recurrent attacks of fever and pharyngitis lasting 2-3 days every 10-15 days since the first two weeks of life. Inflammatory attacks were accompanied by diarrhoea, oral aphthous ulcers, cervical lymphadenopathy, maculopapular rash, severe leukocytosis and perianal fistulae/abscess. After the initiation of canakinumab, the patient was clinically improved with complete healing of perianal fistulas/abscesses. In conclusion, hyperimmunoglobulinaemia D syndrome should be considered in differential diagnosis of inflammatory bowel disease and recurrent perianal abscess/fistula in a patient with inflammatory attacks.

9.
Clin Rheumatol ; 38(3): 921-926, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30706291

RESUMO

INTRODUCTION: Familial Mediterranean fever (FMF) is characterized by self-limiting fever episodes usually accompanied by serositis, arthralgia, and arthritis. Functional gastrointestinal disorders (FGIDs) are diseases in which brain-gut axis and low-grade inflammation take part in pathogenesis. We aimed to study the FGIDs frequencies and possible risk factors for FGIDs in children with FMF. METHOD: This case-control study included 103 children with FMF followed up between July 2016 and July 2018 and 100 healthy controls. Age, gender, disease characteristics, and MEFV gene results were recorded retrospectively. Laboratory parameters were obtained at the time of study enrollment. Diagnosis of FGIDs was assessed with Rome IV criteria. RESULTS: The mean age at study enrollment was 12.58 ± 3.79 and 9.71 ± 3.59 years in FMF and healthy control groups, respectively. Overall FGID frequency was 39.8% (n = 41) in FMF patients and 19% (n = 19) in the control group. Functional dyspepsia and irritable bowel syndrome (particularly constipation predominant subtype) rates were statistically higher in the FMF group. In detail, genotype, age at onset, symptoms, colchicine duration, and colchicine responses did not differ between FMF patients in regard to having FGIDs. CONCLUSIONS: This study showed that children with FMF may predispose to pain predominant FGIDs. We also suggest that FGIDs should be considered in FMF patients suffering recurrent abdominal pain episodes unaccompanied by APR elevation, which can be also named as incomplete FMF attacks.


Assuntos
Febre Familiar do Mediterrâneo/epidemiologia , Gastroenteropatias/epidemiologia , Dor Abdominal/epidemiologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Colchicina/uso terapêutico , Constipação Intestinal/epidemiologia , Diarreia/epidemiologia , Dispepsia/epidemiologia , Febre Familiar do Mediterrâneo/tratamento farmacológico , Feminino , Humanos , Síndrome do Intestino Irritável/epidemiologia , Masculino , Moduladores de Tubulina/uso terapêutico
10.
Clin Rheumatol ; 38(5): 1459-1468, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30648229

RESUMO

OBJECTIVES: This study was conducted to analyze clinical characteristics, laboratory data, disease activity, and outcome of juvenile systemic lupus erythematosus (jSLE) patients from southern Turkey. METHODS: Fifty-three patients with jSLE diagnosed according to the revised American College of Rheumatology 1997 criteria between January 2005 and June 2018 were included in the present study. RESULTS: The median age at the diagnosis was 12.8 (range, 5.1-17.7) years. The female to male ratio was 9.6:1. The most prevalent clinical features were mucocutaneous involvement (96.2%) and constitutional manifestations (94.3%). Renal manifestations, hematological manifestations, and neuropsychiatric involvement were detected in 40 (75%), in 38 (71.7%), and in 13 (24.5%) patients, respectively. Renal biopsy was performed to 49 patients (92.5%). Class IV lupus nephritis (LN) (34%) and class II LN (20.4%) were the most common findings. Mycophenolate mofetil, cyclophosphamide with corticosteroid were the main treatment options. Eighteen patients received rituximab and one tocilizumab. The mean SLE Disease Activity Index (SLEDAI) score at the time of diagnosis was 22.47 ± 8.8 (range = 3-49), and 1.34 ± 1.85 (range = 0-7) at last visit. Twenty-one patients (39.6%) had damage in agreement with Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (PedSDI; mean = 0.60 ± 0.94; range = 0-5) criteria. Growth failure was the most prevalent cause of damage (n = 13, 26%). One patient deceased due to severe pulmonary hemorrhage and multiple cerebral thromboses. CONCLUSION: jSLE patients in this cohort have severe disease in view of the higher frequency of renal and neurologic involvement. Nevertheless, multicenter studies are needed to make a conclusion for all Turkish children with jSLE.


Assuntos
Progressão da Doença , Rim/patologia , Lúpus Eritematoso Sistêmico/fisiopatologia , Nefrite Lúpica/fisiopatologia , Adolescente , Corticosteroides/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Criança , Pré-Escolar , Ciclofosfamida/uso terapêutico , Feminino , Humanos , Estudos Longitudinais , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Nefrite Lúpica/tratamento farmacológico , Masculino , Ácido Micofenólico/uso terapêutico , Estudos Retrospectivos , Índice de Gravidade de Doença , Turquia
11.
Scott Med J ; 64(2): 74-77, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30453828

RESUMO

INTRODUCTION: Henoch Schönlein purpura is characterised by palpable purpura, abdominal pain, arthritis/arthralgia, often with a self-limiting course. Herein, we report a patient with recurrent Henoch Schönlein purpura and severe gastrointestinal involvement, successfully treated with methotrexate. CASE PRESENTATION: A 12-year-old boy was admitted to our department with palpable purpura, abdominal pain and arthralgia. Since gastrointestinal complaints were severe, systemic steroids were administered, with tapering of dosage. Henoch Schönlein purpura recurred several times with severe abdominal pain, maelena and purpura during next two months. Colchicine and hydroxychloroquine were initiated. After four months, we also introduced methotrexate, which enabled discontinuation of previous medications including corticosteroids. Methotrexate was ceased four months later, and remission was sustained without any medications for 24 months. CONCLUSION: Besides the conflicting data regarding the use of methotrexate in recurrent Henoch Schönlein purpura, our case introduces successful methotrexate experience in a child with Henoch Schönlein purpura and recurrent severe gastrointestinal involvement.

12.
Korean J Intern Med ; 34(2): 335-343, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29976036

RESUMO

BACKGROUND/AIMS: Morphological changes due to lung disease in patients with cystic fibrosis (CF) were evaluated using high resolution computed tomography (HRCT), and the HRCT scores obtained using the Bhalla scoring system were correlated with those obtained using clinical and laboratory indicators. METHODS: Medical records of 28 children with CF who underwent chest CT in Department of Pediatric Allergy and Immunology, Cukurova University Balcali Hospital between March 2011 and January 2016 were retrospectively reviewed. Demographic data and physical examination, respiratory cultures, pulmonary function tests, and chest HRCT findings were evaluated. Patients were divided into the following two groups according to their forced expiratory volume in the first second (FEV1) values: normal FEV1 (≥ 80% of predicted values) and low FEV1 (< 80% of predicted values). Deep throat or sputum cultures were evaluated for the presence of Pseudomonas aeruginosa (PsA) and other bacteria. HRCT scans were scored using the Bhalla scoring system. RESULTS: No significant correlation was found between the Bhalla scores and sex, age group, or height percentiles. Significant relationships were found between the Bhalla score and weight (p = 0.036) and body mass index (BMI) (p = 0.032) percentiles below the third percentile, bacterial growth in the sputum/ deep throat cultures (p = 0.009), and presence of PsA (p = 0.004). Moreover, a significant correlation was found between the Bhalla score and FEV1 (r = -0.315, p = 0.0272), forced vital capacity (FVC; r = -0.381, p = 0.0178), forced expiratory flow between 25% and 75% of FVC (r = -0.229, p = 0.0431), and BMI (r = -3.368, p = 0.050). CONCLUSION: Chest HRCT is an important diagnostic tool for the pulmonary evaluation of children with CF.

13.
Rheumatol Int ; 39(2): 317-322, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30101368

RESUMO

Henoch-Schönlein purpura (HSP), the most common childhood vasculitis is characterized by non-thrombocytopenic palpable purpura, arthritis/arthralgia, abdominal pain and renal involvement. Functional gastrointestinal disorders (FGIDs) are heterogeneous disease spectrum with unclear etiology and include the most common subtypes: functional dyspepsia, irritable bowel syndrome (IBS), functional abdominal pain and functional constipation. Formerly, FGIDs were known as non-organic disorders; however, recent advances revealed that low-grade inflammation may also play a role. We aimed to clarify whether HSP predisposes to FGIDs in pediatric population. Seventy-four children with HSP, diagnosed at least 6 months before the study and 78 healthy controls were enrolled to the study. Patients with red flag signs for organic GI disorders were excluded. Rome IV criteria were utilized for FGIDs diagnosis. We compared the frequencies of FGIDs between HSP patients and healthy subjects. We also examined the parameters including age, abdominal pain, arthralgia, bloody stool, renal involvement and treatment with corticosteroids and laboratory results at HSP diagnosis such as erythrocyte sedimentation rate, C-reactive protein, hemoglobin, leukocytes and platelet counts among patients with and without FGIDs. Overall FGIDs and IBS frequency were 35.1% (n = 26) and 10.8% (n = 8) in HSP patients, 19.2% (n = 15) and 2.6% (n = 2) in healthy controls, respectively. Disease characteristics and laboratory parameters at disease onset were similar between HSP patients with and without FGIDs. Overall FGIDs rate, particularly IBS were statistically higher in HSP patients. We speculate that children with preceding HSP may be predisposed to FGIDs. Since the FGIDs pathogenesis is still remains unclear, further studies are needed to confirm this hypothesis and clarify the etiology. Physicians also should pay attention to FGIDs in HSP patients with ongoing abdominal pain and thus prevent this comorbidity with dietary and psychologic measures.

14.
Postgrad Med ; 131(1): 68-72, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30513227

RESUMO

OBJECTIVES: Henoch-Schönlein purpura (HSP) is characterized by non-thrombocytopenic palpable purpura, abdominal pain, and arthralgia/arthritis. We aimed to describe the clinical presentations of children with HSP in a single center and compare the prevalence of each manifestations between patients with MEFV variants, particularly in exon 10 and those without. METHODS: This cohort retrospectively included 144 HSP (59 females, 85 males) patients without Familial Mediterranean Fever (FMF) symptoms and followed for at least 6 months. We utilized the MEFV gene sequencing by using next-generation sequencing platform (MiSeq System, Illumina). RESULTS: At least one MEFV variant was detected in 73 (50.7%) of 144 HSP patients and 5 (3.5%) patients were homozygote for M694V mutation. Although severe gastrointestinal involvement and nephritis rates were similar, we found that serum IgA, leukocyte, and platelet count at diagnosis were higher and hemoglobin was lower in HSP patients with MEFV gene variants in exon 10 than those without. Additionally, HSP patients with MEFV variants in exon 10 more often present with abdominal pain and intussusception. CONCLUSION: MEFV variants in exon 10 may affect clinical presentation of HSP in populations where FMF is common. While HSP may be an initial symptom of FMF, we speculate that physicians should be aware of FMF possibility in children with intussusception and lower hemoglobin, higher serum IgA, leukocyte, and platelet count.


Assuntos
Púrpura de Schoenlein-Henoch/genética , Pirina/genética , Adolescente , Criança , Pré-Escolar , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Mutação , Prevalência , Púrpura de Schoenlein-Henoch/diagnóstico , Estudos Retrospectivos
15.
Turk J Pediatr ; 61(2): 174-179, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31951326

RESUMO

Dogruel D, Gündeslioglu ÖÖ, Yilmaz M, Alabaz D, Altintas DU, Kocabas E. Clinical findings and genetic analysis of the patients with IL- 12Rß1 deficiency from southeast Turkey. Turk J Pediatr 2019; 61: 174-179. IL-12Rß1 deficiency is an autosomal recessive disorder characterized by predisposition to poorly pathogenic mycobacteria, salmonella and candida species. We aimed to analyze the clinical manifestations, immunological and genetic features of IL-12Rß1 deficiency in 10 Turkish patients from a single center. We retrospectively studied the clinical manifestations and genetic analysis of the IL-12Rß1 deficiency patients from 2008 to 2016. Ten patients were diagnosed and followed for eight years. The mean age at onset and diagnosis were 24.1±42.5 (med:10.5) and 52.3±6.83 (med:20) months, respectively. Parental consanguinity rate was 81.8%. All patients were BCG vaccinated. Abscess and axillary lymphadenopathy in the vaccinated area was the most common initial presentation following the BCG vaccination, six patients had recurring oral candidiasis. Active infections were treated appropriately, in addition to prophylactic therapy with IFNÉ£. We identified 6 different mutations in the IL12RB1 gene in 10 patients including 5 splice-site mutations, 3 missense, 1 frameshift, 1 premature stop codon. One of these mutations was novel. The most common mutation was IVS8+1G > A(c.783+1G > A) followed by p.R175W(c.523C > T). This study emphasizes that patients presented with abscess and axillary lymphadenopathy associated with BCG vaccination should be evaluated for IL-12Rß1 deficiency.

16.
Pediatrics ; 142(5)2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30377239

RESUMO

Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease that was firstly described in patients with early-onset strokes, livedo reticularis, and periodic fever resembling polyarteritis nodosa. In reported case series, researchers described highly variable manifestations, including autoimmunity, immunodeficiency, hepatosplenomegaly, pancytopenia, ichthyosiform rash, and arthritis, in patients with DADA2. A thirteen-year-old female patient who was born to consanguineous parents was admitted to our hospital with generalized edema and leg pain. A physical examination revealed splenomegaly and left knee arthritis. Nephrotic-range proteinuria and hypoalbuminemia were present, and a renal biopsy revealed amyloidosis. Despite the absence of periodic fever and livedo reticularis, our patient had suggestive features of DADA2, including low serum immunoglobulin G and immunoglobulin M levels, hepatosplenomegaly, and renal amyloidosis. We found a heterozygote Met694Val mutation in the Mediterranean fever gene and a novel homozygote Thr317Argfs*25 (c.950-950delCys) mutation in the cat eye chromosome region 1 gene. A functional analysis revealed absent plasma adenosine deaminase 2 activity. Canakinumab was administered because of unresponsive proteinuria despite 2 months of treatment with colchicine and methylprednisolone. Proteinuria improved after 7 doses of canakinumab. In conclusion, DADA2 should be considered in the differential diagnosis of renal amyloidosis, particularly in the absence of homozygote Mediterranean fever mutations. Although anti-tumor necrosis factor agents are widely offered in DADA2 treatment, we speculate that canakinumab may be an appropriate treatment of renal amyloidosis in DADA2.


Assuntos
Amiloidose/tratamento farmacológico , Anticorpos Monoclonais/uso terapêutico , Nefropatias/tratamento farmacológico , Imunodeficiência Combinada Severa/complicações , Adenosina Desaminase/genética , Adolescente , Amiloidose/etiologia , Anticorpos Monoclonais Humanizados , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Nefropatias/etiologia , Mutação
17.
Rheumatol Int ; 38(1): 83-87, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29143127

RESUMO

Familial Mediterranean fever is an autoinflammatory disorder characterized by recurrent fever and serositis. We aimed to describe serum vitamin B12 and vitamin D levels and their correlation with self-reported sleep quality of pediatric FMF patients. Sixty-three children with FMF were enrolled to the study. Information on sleep quality was obtained using self-administration of Pittsburg Sleep Quality Index (PSQI). The patients were divided into subgroups depending on vitamin D serum concentrations: ≥ 20 and < 20 ng/ml. We also grouped patients according to their serum B12 concentration: ≥ 200, < 200 pg/ml. B12 levels were not correlated with PSQI scores, whereas significant correlation was found between vitamin D and total PSQI scores and daytime sleepiness. Total PSQI score, sleep disorders and daytime sleepiness sub-scores were statistically high in patients with serum D vitamin levels below 20 ng/ml. Sleep efficiency was found lower in patients with serum B12 levels below 200 pg/ml. B12 may have a positive role on effective sleep. More importantly, we suggest that vitamin D is protective against sleep disorders and poor sleep, it may also improve daytime activities.


Assuntos
Febre Familiar do Mediterrâneo/sangue , Transtornos do Sono-Vigília/sangue , Sono/fisiologia , Vitamina B 12/sangue , Vitamina D/sangue , Adolescente , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/complicações , Feminino , Humanos , Masculino , Transtornos do Sono-Vigília/complicações
18.
J Pediatr Hematol Oncol ; 40(6): e380-e382, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-28902078

RESUMO

BACKGROUND: Hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disease characterized by recurrent infections and elevated levels of serum immunoglobulin E, usually over 2000 IU/mL. Recurrent and chronic infection of the epidermis and squamous epithelium may also be a cause of squamous cell carcinoma (SCC). SCC is rare with HIES. CASE REPORT: A 17-year-old male patient who was diagnosed as HIES was admitted with purulent right ear discharge. The patient had a history of eczema starting from the age of 7 months and a history of recurrent middle ear infection starting from the age of 5. Biopsy specimens were taken from the lesion in the external auditory canal, and the lesion was reported as SCC. CONSLUSION: Patients with autosomal recessive HIES are at an increased risk for infections and malignancies. SCC should be considered in the differential diagnosis of the patients presenting with recurrent middle ear infections and immunodeficiency.


Assuntos
Carcinoma de Células Escamosas , Neoplasias da Orelha , Síndrome de Job , Neoplasias Cutâneas , Adolescente , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Neoplasias da Orelha/diagnóstico , Neoplasias da Orelha/genética , Neoplasias da Orelha/patologia , Humanos , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Síndrome de Job/patologia , Masculino , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia
19.
Turk J Pediatr ; 60(5): 584-587, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30968642

RESUMO

Dogruel D, Bulut FD, Yilmaz M, Önenli-Mungan N, Altintas DU. Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor ß1 and biotinidase deficiencies. Turk J Pediatr 2018; 60: 584-587. In this report, we described an infant with both partial biotinidase and IL-12Rß1 deficiencies as these two entities are rare and unrelated inherited disorders. One-month-old girl was diagnosed as partial biotinidase deficiency with newborn screening programme. Mutation analysis revealed a compound heterozygous mutation BTD: c.1330G > C (p.Val444Leu) / c.196_197dupCATC (p.Leu69HisfsTer24). At the age of 6 months, a nodule on her left axilla with purulent discharge was noticed which was related to BCG vaccination. A mutational analysis revealed a homozygous c.783+1G > A mutation on IL-12Rß1 gene. Interferon-gamma and anti-tuberculosis treatment were initiated together and the nodule with purulent discharge regressed dramatically. Here, we want to emphasize consideration of coexistence of two rare autosomal recessively inherited diseases in a patient due to the high rate of consanguinity in our country.


Assuntos
Deficiência de Biotinidase/complicações , Síndromes de Imunodeficiência/diagnóstico , Receptores de Interleucina-12/deficiência , Antituberculosos/uso terapêutico , Deficiência de Biotinidase/genética , Análise Mutacional de DNA/métodos , Feminino , Humanos , Síndromes de Imunodeficiência/genética , Lactente , Recém-Nascido , Interferon gama/uso terapêutico , Mutação , Triagem Neonatal/métodos , Receptores de Interleucina-12/genética
20.
Int Arch Allergy Immunol ; 173(3): 178-182, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28787739

RESUMO

BACKGROUND: Although it is known that there has been an increase in asthma and allergic diseases among school-aged children, results vary between countries. The aim of this study was to examine trends in the prevalence of these diseases in the city of Adana (south Turkey) over the last 20 years based on the results of 3 cross-sectional studies. METHODS: Three cross-sectional surveys were performed 10 years apart in south Turkey. Here, we compare the surveys conducted among children between the ages of 6 and 14 years from 1994, 2004, and 2014. The participants were randomly chosen among children attending participating primary schools in Adana. The questionnaire in the first survey contained almost the same questions as the ISAAC. In the 2 latter surveys, we used the ISAAC questionnaire to investigate the prevalence of asthma and other allergic diseases. RESULTS: A total of 2,334 children in 1994, 3,728 children in 2004, and 3,209 children in 2014 were included in the final analysis. The results showed a statistically significant increase in the prevalence of physician-diagnosed allergic diseases across the years, respectively: asthma (5, 4.6, and 8.9%), allergic rhinitis (8.8, 11.4, and 15.6%), and atopic dermatitis (5, 9.9, and 7%). In contrast, the prevalence of parent-reported current wheeze (16.2, 13.2%) decreased in the last 10 years. CONCLUSIONS: Our findings were consistent with the increased prevalence of childhood asthma and other allergic diseases. However, this pattern did not occur in respiratory symptoms.


Assuntos
Hipersensibilidade/epidemiologia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , Inquéritos e Questionários , Turquia/epidemiologia
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