Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients.

A defect in MEFV gene expression regulation has been implicated in familial Mediterranean fever (FMF) etiopathophysiology. Here we show significantly higher expression level in second exon lacking MEFV transcript in FMF patients compared with healthy controls (P=0.026). Our results also point out a possible role of exon 2 deleted MEFV transcript in FMF pathogenesis.

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.

Dissection of the abdominal aorta in a child with Takayasu's arteritis.

Takayasu's arteritis is a chronic inflammatory disease that primarily involves the aorta and its main branches. Varying degrees of narrowing, occlusion, or dilatation develop in the involved vessel segments. However, dissection of the aorta is quite rare in this disease, and it may develop particularly after angioplasty. We report a very rare case of Takayasu's arteritis with dissection of the abdominal aorta just distal to the origin of the inferior mesenteric artery in a 9-year-old girl. She was treated conservatively with close follow-up. At the end of 1 year's follow-up, the dissection of the aorta did not show progression, and new lesions were not identified. To our knowledge, this patient is the youngest child presented with arterial dissection as the initial manifestation of the disease.

Juvenile chronic arthritis in a Turkish population.

The clinical characteristics of 147 Turkish patients with juvenile chronic arthritis seen between 1980 and 1988 were analyzed retrospectively. There was a male predominance (1.3:1), and a relatively low occurrence of early onset pauciarticular disease (16%), chronic anterior uveitis (7%) and positive antinuclear antigens (6%), but a high incidence of secondary amyloidosis (10%) was seen.

The Turkish version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

We report herein the results of the cross-cultural adaptation and validation into the Turkish language of the parent's version of two health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health instrument designed to capture the physical and psychosocial well-being of children independently from the underlying disease. The Turkish CHAQ CHQ were fully validated with 3 forward and 3 backward translations. A total of 145 subjects were enrolled: 85 patients with JIA (35% systemic onset, 41% polyarticular onset, and 24% persistent oligoarticular subtype) and 60 healthy children. The CHAQ clinically discriminated between healthy subjects and JIA patients, with the systemic, and polyarticular subtypes having a higher degree of disability, pain, and a lower overall well-being when compared to their healthy peers. Also the CHQ clinically discriminated between healthy subjects and JIA patients, with the systemic onset, and polyarticular onset having a lower physical and psychosocial well-being when compared to their healthy peers. In conclusion the Turkish version of the CHAQ-CHQ is a reliable, and valid tool for the functional, physical and psychosocial assessment of children with JIA.

Growth and IGF-1 levels of children with familial Mediterranean fever on colchicine treatment.

OBJECTIVE: To evaluate growth process and insulin like growth factor-1 (IGF-1) levels in children with familial Mediterranean fever (FMF). METHODS: This prospective study group consisted of 51 children with FMF under colchicine therapy (20 boys, 31 girls) and 42 healthy children (22 boys, 20 girls). All children were prepubertal. Bone ages and IGF-1 levels were determined in all cases. Height velocity (HV), height standard deviation score (SDS), target height and target height SDS were calculated. RESULTS: There was no statistical difference in age, HSDS, target height SDS and bone ages between healthy and diseased subjects. HV of children with FMF did not differ significantly from the control group. There was no statistical difference in age, HSDS, target height SDS and bone ages between healthy and FMF subjects. HV of children with FMF did not differ significantly from the control group. There was no significant correlation between disease duration, number of attacks, erythrocyte sedimentation rate and HV, HSDS and IGF-1 levels of FMF patients. There was positive correlation between cumulative colchicine dose and HV (r = 0.29). CONCLUSION: Growth and IGF-1 levels of children with FMF do not differ from their healthy peers. However, there was positive correlation between HV and cumulative colchicine dose. This study suggests that colchicine not only has no adverse influence on growth, but more by suppressing disease activity and inflammation it has an enhancing role.

Erythromelalgia associated with hypertension and leukocytoclastic vasculitis in a child.

Erythromelalgia is an acrocyanotic rheumatic disease presenting with erythema, and pain and a burning sensation in the hands and feet; it is rarely encountered during childhood. Hot or warm conditions may precipitate pain and erythema in the extremities and the symptoms may regress upon the application of cold water. The disease is usually secondary to other systemic diseases in adults. On the other hand, it is idiopathic in children. This article describes a case of erythromelalgia presenting with leukocytoclastic vasculitis and hypertension in a 7-year-old child who responded to therapy with prednisolone and phenoxybenzamine.

Pulmonary hypertension due to chronic upper airway obstruction: a clinical review and report of four cases.

Partial airway obstruction due to the enlargement of the tonsils and adenoids is a well recognized clinical entity, but cardiorespiratory changes due to chronic obstruction have infrequently been reported. Four children with severe nasopharyngeal obstruction due to tonsil and adenoid hypertrophy, who developed pulmonary hypertension and cardiac failure, were studied. Relief of upper airway obstruction by adenotonsillectomy resulted in a regression of the presenting signs and symptoms.

Tubular markers in children with insulin-dependent diabetes mellitus.

The aim of the present study was to investigate the prevalence of tubular dysfunction and to assess the clinical significance of low-molecular-weight proteinuria and enzymuria in children with insulin-dependent diabetes mellitus (IDDM). N.acetyl-beta-D-glucosaminidase (NAG) and beta-microglobulin (beta 2 M) excretion was determined in 52 children with insulin-dependent diabetes mellitus and 28 controls. Patients were grouped according to the duration of diabetes: group 1 (n = 7): less than one year; group 2 (n = 27): one to five years; groups 3 (n = 18): greater than five years. Both parameters were significantly increased in groups 2 and 3 compared to controls. Urinary beta 2 M levels correlated significantly with albuminuria and HbA1C, while urinary NAG levels correlated only with HbA1C. Two to four samples were obtained from 35 of 52 diabetic patients in the study group at one-month intervals. Of these, 23 patients had elevated NAG levels, and 22 patients increased beta 2 M excretion. However, only six patients displayed persistent enzymuria, and nine low-molecular-weight proteinuria. The mean (SD) of coefficients of variation of each patient was 50.45 (+/-28.24) for NAG and 68.25 (+/-42.57) for beta 2 M excretion. We concluded that early tubular dysfunction and/or damage occurs in IDDM but is not established in the majority of children.

Superior vena cava syndrome as a result of thrombosis in a child with nephrotic syndrome.

A three-year-old nephrotic girl is presented with vena cava superior syndrome. Angiography showed obliteration of the distal ends of both axillary veins and echocardiographic examination revealed a mobile mass in the right atrium. A thrombus originating from the vena cava superior with a stalk extending to the right atrium was surgically removed. To our knowledge, vena cava superior thrombosis in nephrotic syndrome has not been reported previously.

Frequency of antinuclear antibodies and rheumatoid factor in healthy Turkish children.

The frequency of antinuclear antibodies (ANA) and rheumatoid factor (RF) was investigated in 118 apparently healthy children (56 male, 62 female). The mean age was 9.8+/-2.3 years. Antinuclear antibodies (ANA) were detected by indirect immunofluorescence, using a Hep-2 cell substrate. Nephelometry was used to quantify RF in 116 children. Five serum samples (4%, 3M, 2F) were ANA-positive in low titers and all had a speckled pattern. None of the ANA-positive children had other extractable antinuclear antibodies. Rheumatoid factor (RF) was over 25 IU/ml in four children (3%, 3F, 1M). None of these was positive for both antibodies. Our results suggest a similar frequency of ANA in healthy Turkish children even with a Hep-2 cell substrate, when compared to results of other reports. On the other hand, RF was more frequent than in other reported series.

Urinary N-acetyl-beta-D-glucosaminidase and beta 2-microglobulin excretion in primary nephrotic children.

Enzymuria and low molecular weight proteinuria reflect tubular damage and dysfunction, respectively. We examined urinary N-acetyl-beta-D-glucosaminidase (U-NAG) and beta 2-microglobulin (U-beta 2M) excretion in 17 steroid-resistant and 39 steroid-sensitive children with nephrotic syndrome whose glomerular filtration rates were within the normal range. Fourteen healthy children were taken as controls. U-NAG and U-beta 2M levels did not show a difference between the steroid-resistant and steroid-sensitive groups but were significantly higher in the nephrotic groups compared to the controls (p < 0.0001 and p < 0.01, respectively). In the steroid-sensitive group, U-NAG levels were significantly higher in patients in the relapse phase than in those in remission (p < 0.0001). This finding was also valid for U-beta 2M excretion, but reached significance only for patients in remission who did not receive steroids (p < 0.01). There was a positive correlation between proteinuria and U-NAG and U-beta 2M excretion in all patients (rs = 0.69, p < 0.001 and rs = 0.39, p < 0.001, respectively). In conclusion, massive glomerular proteinuria may cause a marked U-NAG excretion and a moderate urinary U-beta 2M elevation independent of primary renal disease.

Hypercalciuria and hematuria in juvenile rheumatoid arthritis.

OBJECTIVE: To investigate the frequency of hypercalciuria and the relationship between hypercalciuria and hematuria in patients with juvenile rheumatoid arthritis (JRA). METHODS: Twenty-eight children with JRA were studied, as well as 10 patients with acute arthritis unrelated to JRA and 14 healthy children as control groups. Cases with urinary calcium excretion (UCE) >4 mg/kg/day were considered hypercalciuric. Urinalysis was performed for detecting hematuria in all cases. RESULTS: UCE was 4.19 +/- 2.9 mg/kg/day in patients with JRA, 1.94 +/- 1.57 mg/kg/day in children with acute arthritis, and 2.0 +/- 1.45 mg/kg/day in healthy children. UCE was significantly higher in JRA compared with the other study groups. Of the 28 patients with JRA, 13 (46.4%) had hypercalciuria and 6 (21.4%) had hematuria. UCE was significantly higher in hematuric patients with JRA than in those with no hematuria (p<0.05). UCE in patients with JRA without hematuria was also higher than the UCE values detected in the disease and healthy control groups (p<0.05). CONCLUSION: Hypercalciuria is a frequent finding in patients with JRA [13/28 (46.4%)] and should be considered during the investigation of hematuria in patients with JRA.

A survey of phenotype II in familial Mediterranean fever.

OBJECTIVE: Phenotype II in familial Mediterranean fever (FMF) is the onset of amyloidosis before the onset of FMF with its typical attacks, or as an isolated finding in a member of an FMF family. Its presence was investigated by looking for proteinuria among the asymptomatic relatives of patients with FMF complicated by amyloidosis and among the asymptomatic relatives of patients with juvenile chronic arthritis (JCA) complicated by amyloidosis, used as controls. METHODS: The relatives of the index patients (13 with FMF and amyloidosis) and controls (6 with JCA and amyloidosis) were screened for proteinuria. Rectal biopsies were performed when proteinuria was significant (>/=300 mg/d). RESULTS: 461 relatives were screened in the FMF group and 269 among the controls. Two of the FMF relatives and one JCA relative had no symptoms of FMF but had significant proteinuria. Rectal biopsy for amyloidosis was negative in all instances of significant proteinuria. CONCLUSION: Phenotype II is uncommon among the relatives of patients with FMF and amyloidosis.

Vasculitis in familial Mediterranean fever.

OBJECTIVE: To evaluate the frequency of vasculitis, mainly in the forms of Henoch-Schönlein purpura and polyarteritis nodosa (PAN), and to investigate the presence of occult blood in the first stool specimens after an abdominal attack in Turkish patients with familial Mediterranean fever (FMF). METHODS: Review of the charts of 207 patients with FMF seen between 1983 and 1993 with respect to clinical vasculitis. A prospective study designed to test the presence of occult blood in the first stool specimens obtained after abdominal attack and at least one week later in 36 patients with FMF compared with healthy and diseased controls. RESULTS: There were 15 patients with Henoch-Schönlein purpura (7%), 2 with definite and one with probable PAN (1%), one of whom developed perirenal hematoma. The diagnosis of FMF was made after the onset of Henoch-Schönlein purpura in 9 and subsequent to the development of PAN in one patient. Occult blood was positive in the first stool specimens obtained after an attack in 17 of the 36 patients with FMF (47%), a finding not reported previously. CONCLUSION: Vasculitis seems to be an important but not a widely recognized feature of FMF.

Diagnostic accuracy of anti-cyclic citrullinated peptide antibodies in juvenile idiopathic arthritis.

OBJECTIVE: To correlate serum anti-cyclic citrullinated peptide antibodies (anti-CCP) levels with juvenile idiopathic arthritis (JIA) subtypes and with an erosive disease course. METHODS: The study group comprised 122 children with JIA; 16 were evaluated during both active disease and remission. Nineteen children with systemic lupus erythematosus (SLE), 27 with rheumatoid arthritis (RA), and 15 healthy children were also included in the study. Twelve children with JIA were rheumatoid factor (RF) positive, and 34 patients had persistent erosive joint disease. Anti-CCP antibody levels were determined by ELISA; values above 5 relative units were regarded as positive. RESULTS: Three girls with seropositive polyarticular JIA and erosive joint disease had positive anti-CCP values. Children evaluated during active disease and remission, patients with SLE, and healthy children all had negative anti-CCP antibody levels. However, 19/27 (70%) adult patients with RA had positive anti-CCP antibody values. CONCLUSIONS: In contrast with RA, anti-CCP positivity is only rarely found in patients with JIA. In patients with RF positivity and/or in patients with erosive joint disease, anti-CCP can be detected.