Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population.

Objective: To evaluate the effect of serum amyloid A (SAA) 1 and SAA2 gene polymorphisms on SAA levels and renal amyloidosis in Turkish patients with familial Mediterranean fever (FMF).

Methods: SAA1 and SAA2 gene polymorphisms and SAA levels were determined in 74 patients with FMF (39 female, 35 male; median age 11.5 yrs, range 1.

Fatal cytophagic histiocytic panniculitis.

Individual cases of so-called Weber-Christian disease with a bleeding diathesis have been reported for several years. These were originally diagnosed as Weber-Christian disease, but have been recategorized on review as a chronic, visceral, and cutaneous histiocytic (cytophagic) panniculitis, progressing to liver dysfunction and jaundice and a terminal hemorrhagic diathesis. We report here a rare catastrophic form of systemic panniculitis in an adolescent girl.

Biochemical markers of bone turnover in the diagnosis of renal osteodystrophy in dialyzed children.

In this study we investigated the value of biochemical markers of bone turnover in the diagnosis of renal osteodystrophy in dialysis patients. The study was carried out in 22 chronic renal failure patients (mean age: 16.1 +/- 4.

Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients.

The aim of this study was to examine whether polymorphisms at serum amyloid A (SAA) and tumor necrosis factor-alpha (TNF-alpha) genes are associated with development of amyloidosis in familial Mediterranean fever (FMF) patients. Seventy-three FMF patients with amyloidosis and 100 other FMF patients without amyloidosis of known genotypes and 100 healthy control subjects were analyzed. There was a significant difference in the frequency of alpha/alpha genotype at the SAA1 locus between FMF patients with amyloidosis and controls and FMF patients without amyloidosis.

Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?

Objective: To analyze 70 individuals who were found to have the Mediterranean fever (MEFV) gene for the presence of definite familial Mediterranean fever (FMF) and to assess if they were prone to clinical and laboratory inflammation. We also prospectively evaluated 72 patients with childhood rheumatic diseases for the presence of MEFV mutations.

Methods: Seventy patients with one MEFV gene mutation were reevaluated for the presence of a clinical FMF phenotype using a new set of criteria.

Th1 polarization in familial Mediterranean fever.

Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by fever and serosal inflammation accompanied with an outburst of acute phase inflammatory products and cytokines. We studied the role of T helper (Th) 1 and 2 cells in FMF to elucidate the character of the inflammation. The cytokine products of Th1 and Th2, interferon-g (IFN-g) and interleukin 4 (IL-4), respectively, were analyzed by intracellular cytokine staining and FACS analysis.

Low serum apolipoprotein AI levels in amyloidosis related to familial Mediterranean fever.

Amyloidosis (A) related to familial Mediterranean fever (FMF) causes serious morbidity and mortality in children. Our study evaluates serum levels of apolipoprotein (Apo) AI, AII, B, and E and Apo AII/AI ratios as a non-invasive diagnostic tool for amyloidosis in children with FMF and FMF-A. Results were compared with those of patients with childhood nephrotic syndrome (NS) and healthy children (controls).

Familial Mediterranean fever and glomerulonephritis and review of the literature.

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent and self-limited attacks of fever usually accompanied by polyserositis. Amyloidosis is its most common renal complication. A number of reports have shown vasculitic diseases such as polyarteritis nodosa and Henoch-Schönlein purpura affecting the kidney in FMF.

Familial mediterranean fever: revisiting an ancient disease.

Unlabelled: Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessive fashion.

Successful renal transplantation in a child with ANCA-associated microscopic polyangiitis.

Crescentic glomerulonephritis (CGN) is a clinicopathologic entity which is characterized by severe renal dysfunction of rapid onset with glomerular crescents. Type III CGN is associated with the absence of glomerular immune complex deposition (pauci-immune) and is associated with antineutrophil cytoplasmic antibody (ANCA). Microscopic polyangiitis and idiopathic pauci-immune necrotizing glomerulonephritis (NCGN) are strongly associated with ANCA directed against myeloperoxidase (anti-MPO).

Urinary glycosaminoglycans in the course of familial Mediterranean fever.

Unlabelled: Familial Mediterranean fever (FMF) is characterised by recurrent fever and serositis. The most important complication of the disease is amyloidosis. Cheap and non-invasive methods would be important in predicting or establishing the early diagnosis of amyloidosis.

Ceruloplasmin levels in antineutrophil cytoplasmic antibody-positive patients.

Anti-myeloperoxidase (MPO) antibodies are associated with the development of anti-neutrophil cytoplasmic antibody (ANCA)-related vasculitis. The imbalance between the protease-antiprotease activity in the neutrophils has been implicated in the pathogenesis of ANCA-related vasculitis. Ceruloplasmin is an acute-phase protein that has antiproteinase and antioxidant properties and inhibits MPO activity.

MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study.

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. The most important complication of FMF is the development of AA type secondary amyloidosis.

Renal Behçet's disease: a cumulative analysis.

Objective: To analyze cumulated data about renal involvement in Behçet's disease (BD) and to report on 6 patients with BD and renal problems.

Methods: We found reports of 159 patients (including our patients) with BD and specific renal disease (amyloidosis 69, glomerulonephritis [GN] 51, renal vascular disease 35, and interstitial nephritis 4) in our survey.

Results: The frequency of renal problems among BD patients has been reported to vary between 0% to 55%.

The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. Clinical data was analyzed from 324 mutation-characterized PKD1 patients (80 families) to document factors associated with the renal outcome. The mean age to end-stage renal disease (ESRD) was 54 yr, with no significant difference between men and women and no association with the angiotensin-converting enzyme polymorphism.