Takayasu Arteritis: A Case Presenting With Neurological Symptoms and Proteinuria.

In this article, we present an 18-year-old female patient who was initially diagnosed as central nervous system vasculitis and focal segmental glomerulosclerosis but later diagnosed as Takayasu arteritis.

Effect of anti-interleukin-1 treatment on quality of life in children with colchicine-resistant familial Mediterranean fever: A single-center experience.

AIM: The aim of this study is to evaluate the clinical parameters, acute-phase reactants, side effects, genetic mutations among colchicine-resistant Familial Mediterranean fever (FMF) patients who received anti-interleukin-1 (anti-IL-1) treatment. We also evaluate the quality of life and school attendance among colchicine-resistant FMF patients, in relation to treatment with anti-IL-1. INTRODUCTION: Familial Mediterranean fever is the most common inherited autoinflammatory disorder. Although the main treatment of FMF is colchicine, a small group of patients are resistant to colchicine treatment. Anti-IL-1 treatment is promising in colchicine-resistant patients due to excessive IL-1ß production in pathogenesis. The aim of this study is to evaluate the quality of life and school attendance rates among colchicine-resistant FMF patients after anti-IL-1 treatment. METHODS: This is a single center retrospective study of 25 pediatric colchicine-resistant FMF patients treated with anti-IL-1 treatment. Autoinflammatory Disease Activity Index (AIDAI) was used for disease activity assessment. School attendance rates were evaluated before and after treatment. RESULTS: There were 25 patients with FMF (11 M/14 F) who were treated with anakinra or canakinumab for various indications (colchicine-resistant recurrent febrile attacks in 20, colchicine-related side effects in 2, subclinical inflammation in 3 patients). Only 3 patients developed side effects with anakinra (2 headache, 1 urticarial rash). There was a significant decrease in the frequency of attacks, acute-phase reactants (erythrocyte sedimentation rate and C-reactive protein), AIDAI and physician's and patient's global assessment scores and improvement in school attendance rates. At the last follow-up, all patients were in remission, and only 3 had subclinical inflammation. CONCLUSION: Anti-IL-1 treatment is quite effective in children with colchicine-resistant FMF patients, proven with improved AIDAI scores and school attendance rates. In the long term by lowering disease activation even development of amyloidosis may be prevented.

Función predictiva del índice de neutrófilos/linfocitos y del volumen plaquetario medio en la púrpura de Henoch-Schönlein relacionada con compromiso renal y gastrointestinal / Predictive role of neutrophil to lymphocyte ratio and mean platelet volume in Henoch-Schönlein purpura related gastrointestinal and renal involvement

Antecedentes: La púrpura de Henoch-Schönlein (PHS) es una vasculitis sistémica de vasos pequeños. El objetivo fue evaluar el índice de neutrófilos/linfocitos (INL) en sangre y el volumen plaquetario medio (VPM) en la PHS e investigar la relación con el compromiso renal y gastrointestinal.Métodos: Se incluyeron niños con PHS y controles sanos. Se evaluaron concentración de hemoglobina, recuento de leucocitos, recuento de trombocitos, INL, VPM, velocidad de sedimentación globular y proteína C-reactiva.Resultados: El INL fue significativamente mayor en los pacientes con PHS con hemorragia gastrointestinal (p < 0,001). El valor ideal de corte del INL para predecir la hemorragia gastrointestinal fue 2,05, con 93 % de sensibilidad y 62 % de especificidad. El VPM fue significativamente mayor en los pacientes con PHS con compromiso renal (p = 0,027).Conclusiones: El INL en sangre y el VPM podrían ser útiles para identificar el compromiso renal y gastrointestinal en la PHS

Background: Henoch-Schönlein purpura (HSP) is a systemic small-vessel vasculitis that occurs mainly in children. The aim was to evaluate the blood neutrophil-to-lymphocyte ratio (NLR) and mean platelet volume (MPV) in patients with HSP and to investigate the relationship with gastrointestinal and renal involvement.Methods: Children with HSP and healthy individuals as controls were included. Hemoglobin level, white blood cell count, platelet count, NLR, MPV erythrocyte sedimentation rate and C-reactive protein were evaluated.Results: There were 71 HSP children and 74 controls. NLR was significantly higher in HSP patients with gastrointestinal bleeding than without gastrointestinal bleeding (p < 0,001). The optimal cutoff value of NLR for predicting gastrointestinal bleeding was 2.05, with 93 % sensitivity and 62 % specificity. MPV was significantly higher in HSP patients with renal involvement than without renal involvement (p = 0,027).Conclusions:Blood NLR and MPV may be useful markers to identify gastrointestinal and renal involvement in HSP patients.

Predictive role of neutrophil to lymphocyte ratio and mean platelet volume in Henoch-Schönlein purpura related gastrointestinal and renal involvement. / Función predictiva del índice de neutrófilos/linfocitos y del volumen plaquetario medio en la púrpura de Henoch-Schönlein relacionada con compromiso renal y gastrointestinal.

BACKGROUND: Henoch-Schönlein purpura (HSP) is a systemic small-vessel vasculitis that occurs mainly in children. The aim was to evaluate the blood neutrophil-to-lymphocyte ratio (NLR) and mean platelet volume (MPV) in patients with HSP and to investigate the relationship with gastrointestinal and renal involvement. METHODS: Children with HSP and healthy individuals as controls were included. Hemoglobin level, white blood cell count, platelet count, NLR, MPV erythrocyte sedimentation rate and C-reactive protein were evaluated. RESULTS: There were 71 HSP children and 74 controls. NLR was significantly higher in HSP patients with gastrointestinal bleeding than without gastrointestinal bleeding (p < 0,001). The optimal cutoff value of NLR for predicting gastrointestinal bleeding was 2.05, with 93 % sensitivity and 62 % specificity. MPV was significantly higher in HSP patients with renal involvement than without renal involvement (p = 0,027). CONCLUSIONS: Blood NLR and MPV may be useful markers to identify gastrointestinal and renal involvement in HSP patients.

Antecedentes: La púrpura de Henoch-Schönlein (PHS) es una vasculitis sistémica de vasos pequeños. El objetivo fue evaluar elíndicedeneutrófilos/linfocitos (INL) ensangreyelvolumen plaquetario medio (VPM) en la PHS e investigar la relación con el compromiso renal y gastrointestinal. Métodos: Se incluyeron niños con PHS y controles sanos. Se evaluaron concentración de hemoglobina, recuento de leucocitos, recuento de trombocitos, INL, VPM, velocidad de sedimentación globular y proteína C-reactiva. Resultados: El INL fue significativamente mayor en los pacientes con PHS con hemorragia gastrointestinal (p < 0,001). El valor ideal de corte del INL para predecir la hemorragia gastrointestinal fue 2,05, con 93 % de sensibilidad y 62 % de especificidad. El VPM fue significativamente mayor en los pacientes con PHS con compromiso renal (p = 0,027). Conclusiones: El INL en sangre y el VPM podrían ser útiles para identificar el compromiso renal y gastrointestinal en la PHS.

Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.

BACKGROUND: Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease-causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation. METHODS: Files of FMF patients were retrospectively evaluated. Patients with at least one E148Q mutation were included to the study. The clinical characteristics and disease severity of the patients who were carrying only E148Q mutation were compared with the patients who were compound heterozygous for E148Q and homozygous for M694V mutation. RESULTS: The study group comprised 33 patients who were homozygous or heterozygous for E148Q; 34 with compound heterozygous E148Q mutations and 86 patients who had homozygous M694V mutation. Patients who had only E148Q mutation were found to have the oldest mean age of disease onset and lowest mean disease severity score. Attack frequency and colchicine doses were lower in patients with only E148Q mutation as compared with the other two groups. The frequency of clinical findings such as fever, abdominal pain, arthralgia, and arthritis among the three groups was similar. CONCLUSION: Familial Mediterranean fever patients with only E148Q mutation are presenting with late-onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.

Sacroiliitis in Children With Familial Mediterranean Fever.

BACKGROUND/OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis. Various diseases were reported to be associated with FMF. The aim of this study was to investigate the frequency and characteristics of sacroiliitis in children with FMF. METHODS: Files of FMF patients who had been seen in 2 reference hospitals in Ankara were retrospectively evaluated. Patients with FMF and concomitant sacroiliitis were included to the study. All patients had magnetic resonance imaging evidence of sacroiliitis. RESULTS: Among 650 FMF patients, 17 (11 females, 6 males; mean age, 13.32 ± 4.24 years) (2.6%) of them were found to have sacroiliitis. Familial Mediterranean fever diagnosis was done prior to sacroiliitis diagnosis in 11 patients (65%) and concurrently or afterward in 6 patients (35%). Ten patients had isolated sacroiliitis, and 7 had associated diseases (5 enthesitis-related arthritis, 1 psoriatic arthritis, and 1 ulcerative colitis). Arthritis (59%), arthralgia (77%), leg pain (71%), heel pain (41%), and enthesitis (29%) were common complaints. Sacroiliac tenderness was detected in 77%, and M694V mutation in almost 90% of the patients. All patients received colchicine therapy. Additionally, 14 of them were treated with nonsteroidal anti-inflammatory drugs, 10 were on sulfasalazine treatment, and 7 of them were on biological agents. CONCLUSIONS: Sacroiliitis can be seen in patients with FMF during childhood, and M694V mutation seems to be a susceptibility factor for its development. Inflammatory low-back pain and leg and heel pain could suggest sacroiliitis.

Heart rate variability in juvenile systemic lupus erythematosus patients.

Basaran Ö, Çetin II, Aydin F, Uncu N, Çakar N, Ekici F, Çelikel Acar B. Heart rate variability in juvenile systemic lupus erythematosus patients. Turk J Pediatr 2019; 61: 733-740. Although neurological involvement has been well recognized in patients with systemic lupus erythematosus (SLE), autonomic nervous system (ANS) involvement has rarely been studied, and has shown conflicting results. The aim of this study was to evaluate the ANS functions by using heart rate variability (HRV) in juvenile patients with SLE. Sixteen juvenile-onset SLE patients and 16 healthy controls were enrolled in the study. All participants underwent 24-hour Holter electrocardiogram monitoring and HRV indices were assessed. The SLE disease activity index (SLEDAI) score was used to assess the disease activity. We analyzed the correlation between disease duration, the SLEDAI score, and the HRV domains. Overall HRV was diminished in patients with SLE compared to controls. There were negative correlations between day and night RMSSD (root-mean-square of the successive normal sinus NN interval differences) and PNN50 (percentage of successive normal sinus NN intervals > 50 ms) values, and SLEDAI (r= -0.588 p=0.017; r= - 0.607 p= 0.013; r= -0.498 p=0.049; r= -0.597 p=0.015, respectively). There were positive correlations between both day and night LF/HF values and SLEDAI (r=0.766 p=0.001; r=0.635 p=0.008, respectively). The results suggest that autonomic dysfunction exists in juvenile patients with SLE. As these children are at increased risk for cardiovascular disease, they need to be assessed for the development of autonomic dysfunction.

C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.

Autoinflammatory diseases (AIDs) are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes (CAPS) are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticarial syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). CAPS have been associated with gain-of-function variations in NLRP3 (NOD-like receptor family, pyrin containing domain-3). However, a new class of autoinflammatory disease resembling FCAS or MWS has been described in patients with NLRP12 mutations. Here, we report a 6-year-old boy diagnosed with AID who developed an unexpected C3 glomerulopathy during attacks and carried a novel variation in NLRP12. Following treatment with IL (interleukin) 1 targeting agents, all symptoms and inflammation resolved. This is the first case in the literature affected by both autoinflammatory disease and C3 glomerulopathy.

Effects of whole blood viscosity and plasma NOx on cardiac function and cerebral blood flow in children with chronic kidney disease

Background/aim: The aim of the study was to investigate the effects of whole blood viscosity and plasma nitric oxide on cerebral and cardiovascular risks associated with chronic kidney disease. Materials and methods: The study group consisted of 40 pediatric patients and 21 healthy control subjects. Hematologic and biochemical variables, viscosity and plasma nitric oxide levels, echocardiographic findings, and middle cerebral artery blood flow velocity were examined. Results: Viscosity values of patients were significantly lower than those of the control group. Lower values of hematocrit, total protein, and albumin and higher values of ferritin in all patient groups resulted in significantly low viscosity levels. Plasma nitric oxide levels were higher in all patient groups than those in the controls. No statistically significant difference was present in middle cerebral artery blood flow velocity between the patient and control groups. Even when systolic functions were normal, the patient group had significant deterioration in diastolic functions, suggesting morbidity and mortality risks. Conclusions: Cerebral blood flow velocities were not affected by viscosity and nitric oxide levels, suggesting that cerebral circulation has the ability to make adaptive modulation. The metabolism of nitric oxide levels needs further investigation and studies in patients with chronic renal disease.

Assessment of neutrophil to lymphocyte ratio and mean platelet volume in pediatric familial Mediterranean fever patients.

BACKGROUND: Blood neutrophil to lymphocyte ratio (NLR) and mean platelet volume (MPV) both have been used as a simple marker of inflammation in many disorders. Here, we aimed to investigate the relationship between NLR, MPV, and familial Mediterranean fever (FMF). MATERIALS AND METHODS: In this retrospective study, the files of FMF patients in pediatric rheumatology outpatient clinic were reviewed. There were 160 participants (68.4%) in the FMF patient group and 74 participants (31.6%) in the control group. Ninety of patients were in attack-free period, and 70 were in attack period. RESULTS: The highest values of NLR were found in the patients at attack period. Patients in attack-free period and the participants in control group had similar levels of NLR (1.71 ± 0.83 and 1.91 ± 1.86 respectively) (P = 0.457), and they had lower ratios than the patients did at attack period (4.10 ± 3.11) (P < 0.001 for both). There was no significant difference between MPV values of attack patients (8.35 ± 4.91) and attack-free patients (8.43 ± 1.15) (P = 0.074). MPV values of attack patients and attack-free patients were significantly higher than control group (7.99 ± 0.81) (P < 0.001 for both). CONCLUSION: NLR ratio may indicate FMF attack period. Since there was no significant difference between attack-free patients and control groups, NLR ratio cannot be used as a subclinical inflammation marker. However, NLR could be a useful predictor of inflammation in FMF patients. On the other hand, since our attack and attack-free patients have similar MPV values and both had greater MPV values than control group, we suggest that MPV may be used to show subclinical inflammation.

Clinico-radiological correlation of nutcracker syndrome: a single centre experience. / Correlación clínico-radiológica del síndrome del cascanueces: Experiencia en un solo centro.

The term nutcracker syndrome (NS) refers to the compression of left renal vein between the aorta and the superior mesenteric artery (SMA) causing renal venous hypertension. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. The purpose of this study is to evaluate the clinical characteristics of patients with NS and the correlation between clinical and laboratory findings with Doppler sonographic measurements. Sixty-three patients were evaluated (19 boys and 44 girls) since January 2004 to January 2014. The mean age of the patients was 12.21 ± 3.21 years (range 7-17). Hematuria and proteinuria disappeared during the follow up of 9/63 patients. These nine patients showed statistically significant difference in upright SMA angles (p= 0.035). Doppler sonographic evaluation is a non-invasive method for diagnosis NS. Upright SMA angle measurement is more efficient than supine SMA angle measurement on clinicoradiological correlation.

Se llama ô€€€síndrome del cascanuecesô€€€ a la compresión de la vena renal izquierda entre la aorta y la arteria mesentérica superior (AMS) que causa hipertensión venosa renal. Los síntomas varían desde hematuria asintomática hasta congestión pélvica grave. El objetivo de este estudio es evaluar las características clínicas de pacientes con síndrome del cascanueces y la correlación entre los datos clínicos y analíticos, y los resultados de las ecografías Doppler. De enero de 2004 a enero de 2014, se evaluaron 63 pacientes (19 niños y 44 niñas). La media de la edad de los pacientes fue de 12,21 ± 3,21 años (intervalo: 7-17). Durante el seguimiento, la hematuria y la proteinuria desaparecieron en 9 de 63 pacientes. Estos 9 pacientes mostraron una diferencia estadísticamente significativa del ángulo entre la aorta y la AMS (p= 0,035) en la medición en posición erguida. La evaluación mediante ecografía Doppler es un método no invasivo para el diagnóstico del síndrome del cascanueces. En la correlación clínico-radiológica, la medición del ángulo aorto-mesentérico en posición erguida es más eficaz que en decúbito supino.

The association between obesity, hypertension and left ventricular mass in adolescents.

BACKGROUND: Obesity and hypertension (HT) are well known cardiac risk factors. Our goal was to show that even if arterial blood pressure (BP) measurements of obese adolescents are normal during clinical examination, ambulatory blood pressure monitoring (ABPM) can be high, may include cardiac involvement and can also detect left ventricular mass indices (LVMI) value for obese adolescents to diagnose left ventricular hypertrophy (LVH). METHODS: This study included 130 children (57 obese hypertensive, 36 obese normotensive, 14 normal weight hypertensive and 23 normal weight normotensive). Adolescents whose BP was measured during clinical examination, after 24-h BP was detected using ABPM, were examined with echocardiography for calculation of LVMI to determine cardiac risk factors for LVH. RESULTS: There was a significant difference between the LVMI of obese-normotensive and obese-hypertensive adolescents, which showed the effect of obesity on LVMI independent of HT. Twenty (35.7%) of 56 obese adolescents with HT detected with ABPM had normal BP measurements during clinical examination. Dipper and nondipper features of obese adolescents were significantly higher in ABPM than those with normal body mass index. When the cutoff LVMI value for LVH was set at ≥38 g/m2.7, 38.9% of obese-normotensive and 50.9% of obese-hypertensive subjects had LVH; however, when the cutoff value was set at ≥51 g/m2.7, the rates were 2.8% and 19.3%, respectively. CONCLUSIONS: Obesity is a risk factor for LVH independent of HT. To identify masked HT, 24-h ABPM and cardiac examination should be routinely performed in obese adolescents. Using a limit of LVMI ≥38 g/m2.7 in evaluating LVH secondary to HT in obese individuals may lead to an overestimated diagnosis rate of LVH.

An unexpected diagnostic course of systemic lupus erythematosus.

Thrombotic microangiopathy (TM), especially thrombotic thrombocytopenic purpura (TTP) is described in systemic lupus erythematosus (SLE) as a severe hematological involvement. However hemolytic uremic syndrome (HUS) is seen less frequently in SLE, particularly as an initial presentation. Here we present a 15-year old boy presenting with gross hematuria, decreased urinary output and petechial lesions. He was diagnosed as atypical HUS according to the classical triad of TM, along with observation of hypocomplementemia and negative stool cultures. In addition, his symptoms fulfilled the 2012 revised criteria for the classification of SLE. He was treated with plasma infusions and methylprednisolone/prednisone. At follow up his laboratory findings and general condition improved and no relapse was seen.

Hemorragia pulmonar, una complicación poco frecuente en una niña con púrpura de Schonlein-Henoch / Pulmonary hemorrhage, a rare complication in a girl with Henoch-Schonlein purpura

La púrpura de Schonlein-Henoch (PSH) es la vasculitis más frecuente en los niños. Los procesos vasculíticos pueden afectar el pulmón. Si bien la hemorragia alveolar difusa puede considerarse una de las manifestaciones de la PSH, no es un cuadro frecuente. En este artículo presentamos el caso de una niña de 10 años con nefritis por PSH que sufrió hemorragia pulmonar. La paciente recibió un tratamiento satisfactorio con metilprednisolona intravenosa. La revisión de las publicaciones reveló que la edad temprana puede influir de manera positiva en el pronóstico, y que los inmunosupresores y el tratamiento complementario son fundamentales.

Henoch-Schonlein purpura (HSP) is the most common vasculitis in children. Vasculitic processes can involve the lung. Although diffuse alveolar hemorrhage may be seen as one of the manifestation of HSP, it is not a frequent presentation. Here we reported the case of a 10-year-old girl with HSP nephritis who developed pulmonary hemorrhage. The patient was treated successfully with intravenous methylprednisolone. A review of the literature revealed that young age may be a good prognostic sign and that immunosuppressive drugs and supportive management are essential in the treatment.

Pulmonary hemorrhage, a rare complication in a girl with Henoch-Schönlein purpura / Hemorragia pulmonar, una complicación poco frecuente en una niña con púrpura de Schönlein-Henoch

Henoch-Schonlein purpura (HSP) is the most common vasculitis in children. Vasculitic processes can involve the lung. Although diffuse alveolar hemorrhage may be seen as one of the manifestation of HSP, it is not a frequent presentation. Here we reported the case of a 10-year-old girl with HSP nephritis who developed pulmonary hemorrhage. The patient was treated successfully with intravenous methylprednisolone. A review of the literature revealed that young age may be a good prognostic sign and that immunosuppressive drugs and supportive management are essential in the treatment.

La púrpura de Schonlein-Henoch (PSH) es la vasculitis más frecuente en los niños. Los procesos vasculíticos pueden afectar el pulmón. Si bien la hemorragia alveolar difusa puede considerarse una de las manifestaciones de la PSH, no es un cuadro frecuente. En este artículo presentamos el caso de una niña de 10 años con nefritis por PSH que sufrió hemorragia pulmonar. La paciente recibió un tratamiento satisfactorio con metilprednisolona intravenosa. La revisión de las publicaciones reveló que la edad temprana puede influir de manera positiva en el pronóstico, y que los inmunosupresores y el tratamiento complementario son fundamentales.

The effect of colchicine and disease severity on physical growth in children with familial Mediterranean fever.

This study aimed to investigate the effects of colchicine on growth parameters in familial Mediterranean fever (FMF) patients. Fifty-one (29 girls, 22 boys) FMF patients were enrolled in the study. All of the patients were in the prepubertal stage and had not received colchicine treatment before the study. Anthropometric measurements, demographic features, clinical findings at diagnosis and during periods of attacks of FMF, disease activity, frequency of exacerbations, colchicine dosage, and weight and height measurements were recorded at an interval of 6 months. Height, weight, and body mass index standard deviation scores and Z-scores were calculated. The mean height standard deviation score (HSDS) was significantly increased from -0.64 ± 1.20 to -0.26 ± 1.07 (p < 0.001), the mean weight standard deviation score (WSDS) was significantly increased from -0.60 ± 1.03 to -0.45 ± 0.98 (p = 0.008), and the mean body mass index standard deviation score was decreased from -0.33 ± 1.06 to -0.47 ± 0.98 (p = 0.128) at 1 year after colchicine treatment compared with before initiation of treatment. In patients who had no FMF attacks during colchicine treatment, height and weight were significantly increased at 1 year (HSDS: p < 0.001 WSDS: p = 0.002), but in patients who had recurrent attacks, height and weight did not change (HSDS: p = 0.051, WSDS: p = 0.816). Even when subclinical inflammation is present, preventing attacks of FMF with colchicine allows growth to continue. However, suppression of subclinical inflammation and control of attacks of FMF are required for weight gain.

Familial Mediterranean fever associated with optic neuritis, successfully treated with anti-interleukin 1 agents.

Familial Mediterranean fever (FMF) is an inherited periodic auto-inflammatory disease characterized by recurrent attacks of fever, synovitis and serositis. Ophthalmological manifestations of FMF are extremely rare. Here we described a boy who has been followed-up for FMF and attended with a loss of vision during the course of the disease. He was diagnosed with optic neuritis. As the other etiologies were excluded his optic neuritis was attributed to the underlying auto inflammatory process. After pulse steroid therapy, his symptoms improved and a complete remission occurred. Afterwards he had two more optic neuritis attacks. Thereafter anti-interleukin 1 (IL-1) drugs were introduced and he did not develop further attacks of both optic neuritis and FMF. This case presentation highlights the possible association between FMF and optic nerve involvement.