1/44. Crescentic glomerulonephritis in hyper IgD syndrome.The hyperimmunoglobulinemia D syndrome (HIDS) is a well-defined entity resembling familial mediterranean fever. HIDS is a systemic inflammatory disease associated with stimulation of T-cell-mediated immunity. These patients are at low risk for amyloidosis and are not known to develop nephropathy. We report a boy of Mediterranean ancestry who exhibited typical HIDS and end-stage renal failure. kidney biopsy revealed pauci-immune crescentic glomerulonephritis (cGN). We hypothesized that the glomerular involvement was secondary to the cytokine network activation observed in HIDS. Thus, cGN should be considered as part of the syndrome, and kidney biopsy should be performed early in the course of the renal disease in patients with HIDS.- - - - - - - - - - ranking = 1keywords = fever (Clic here for more details about this article) |
2/44. Primary sjogren's syndrome in children and adolescents: proposal for diagnostic criteria.OBJECTIVE: Primary sjogren's syndrome (pSS) in childhood is a rare disease. Diagnostic criteria are available for adult patients only. In order to establish diagnostic criteria for juvenile pSS an analysis of 7 girls and one boy suffering from pSS with early onset is reported. Due to the rarity of the disease, data on patients with pSS reported in the literature are included in the proposal for modified diagnostic criteria. methods: The diagnosis of pSS was established according to the criteria for adulthood pSS, duly modified, which include clinical symptoms and laboratory immunological evaluation. RESULTS: The average age of our patients at clinical onset was 13.5 years (range: 10-17 yrs.). Clinical signs included systemic (fever, fatigue) as well as local (parotitis, vulvovaginitis, conjunctivitis) symptoms. paralysis due to hypokalemia linked to renal tubular acidosis and central nervous system (CNS) involvement was seen in one patient. Asymptomatic renal tubular acidosis was diagnosed in another 2 patients. Autoimmune hepatitis was present in 2 patients. All patients had laboratory abnormalities: hyperimmunoglobulinemia IgG, high titers of antinuclear antibodies (anti-SS-A and/or anti-SS-B) and elevated serum amylases. Sicca syndrome was never seen during childhood, although it developed later in 3 patients, after 7 to 10 years of follow-up. CONCLUSIONS: It has been stressed that the classical diagnostic criteria for adult sjogren's syndrome, especially sicca syndrome, are not applicable to a pediatric onset of the disease. On the other hand, the presence of typical laboratory abnormalities can allow the diagnosis of these patients in the early stages. Both laboratory and clinical symptoms typical for childhood are included in our proposal for diagnostic criteria applicable to juvenile pSS. life-threatening conditions such as hypokalemic paralysis, CNS involvement and hepatitis may also occur in children. Sicca syndrome tends to develop much later in pediatric patients.- - - - - - - - - - ranking = 1keywords = fever (Clic here for more details about this article) |
3/44. Lymphonodular cryptococcosis diagnosed by fine needle aspiration cytology in hyper-IgM syndrome. A case report.BACKGROUND: Most cases of cryptococcosis are diagnosed when signs of meningitis have appeared. We report a case of lymphonodular cryptococcosis that was diagnosed by fine needle aspiration cytology (FNAC), excisional biopsy of a cervical lymph node and culture of aspirated material. CASE: An 11-year-old boy presented with a history of fever and enlarged bilateral cervical lymph nodes of two weeks' duration. Past medical history included immunoglobulin replacement for hyper-IgM syndrome for the previous eight years. FNAC smears from a cervical lymph node showed numerous yeasts of various sizes, ranging from 5 to 15 microns in diameter, located in the cytoplasm of multinucleated giant cells and in the background. In air-dried, Diff-Quik-stained slides, the yeasts stained blue and were surrounded by clear halos. Aspirated material collected in the syringe was cultured, and cryptococcus neoformans was isolated. CONCLUSION: This case report suggests that a combination of FNAC and culture is a simple and useful method of diagnosing fungal infections. early diagnosis by FNAC makes possible the early initiation of treatment.- - - - - - - - - - ranking = 1keywords = fever (Clic here for more details about this article) |
4/44. Schnitzler's syndrome with IgG kappa gammopathy.A seventy-year-old man with a variant type of Schnitzler's syndrome is reported. physical examination showed pruritic urticarial lesions on the extremities, arthralgia of knee joints, and intermittent fever. Laboratory investigations revealed a high level of IgG, an increased enythrocyte sedimentation rate, urinary Bence-Jones protein, and an M-bow in serum protein electrophoresis, which was shown to be a monoclonal IgG kappa type. Histological examination showed perivascular neutrophil and lymphocytic infiltration into the upper dermis and diffuse neutrophilic infiltration in the middle dermis. One of the clinical features of typical Schnitzler's syndrome is IgM macroglobulinemia, and this is a very rare case of this syndrome with IgG gammopathy.- - - - - - - - - - ranking = 1keywords = fever (Clic here for more details about this article) |
5/44. mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.OBJECTIVE: Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). Pathogenic mutations in the mevalonate kinase gene in both disorders have demonstrated a common genetic basis. Our aim was to describe the clinical picture of adolescent patients with mevalonate kinase deficiency and to expand the clinical and biochemical spectrum of mevalonate kinase deficiency, particularly with regard to HIDS. methods: We report the clinical history and biochemical findings of 3 patients with mevalonic aciduria. RESULTS: In 2 siblings with mevalonic aciduria, a 15-year-old girl and a 14-year-old boy, the phenotype shifted with age. Ataxia has become the predominant clinical manifestation, whereas the febrile attacks occur less frequently but as yet have not disappeared. Both of them show marked elevations of immunoglobulin d (IgD). Psychomotor development is retarded but not regressive. Short stature developed in both patients. Additional findings include the development of retinal dystrophy and cataracts in both of them. The third patient is a 6-year-old boy who presented at the age of 5 years with cerebellar ataxia and retinal dystrophy. He is different from all known patients with mevalonic aciduria because of the mild neurologic involvement and because he has never developed febrile crises. In addition, levels of IgD were repeatedly normal. CONCLUSION: The clinical and biochemical spectrum of patients with mevalonic aciduria is heterogeneous. Manifestations of the disease seem to be age dependent, as evident from this first report of adolescent patients. In patients who survive infancy, short stature, ataxia caused by cerebellar atrophy, and ocular involvement with retinal dystrophy become predominant findings. Recurrent febrile crises seem to diminish with increasing age and may not even be an obligatory finding. Elevation of IgD is most likely a secondary phenomenon that seems to be linked to recurrent febrile crises.- - - - - - - - - - ranking = 19606.010705227keywords = periodic fever syndrome, fever syndrome, periodic fever, fever (Clic here for more details about this article) |
6/44. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.OBJECTIVE: The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM 260920) is caused by recessive mutations in the mevalonate kinase gene (MVK), which encodes an enzyme involved in cholesterol and nonsterol isoprenoid biosynthesis. HIDS is characterized by persistently elevated polyclonal IgD and recurrent febrile episodes. Although abnormalities in tumor necrosis factor alpha (TNF alpha) are not the primary cause of HIDS, plasma TNF alpha levels are elevated in HIDS patients during attacks and thus may be a therapeutic target. This study assessed the effects of etanercept, a soluble p75 TNF alpha receptor-Fc fusion protein, in 2 patients with HIDS. methods: We performed biochemical and molecular genetic analyses on 2 girls with periodic episodes of fever, skin rash, abdominal pain, and arthralgia, of whom 1 had elevated levels of serum IgD. After the diagnosis of HIDS was made, treatment with etanercept was initiated in both patients. Clinical response was recorded in a standardized diary, and serum levels of cytokines and their decoy receptors were serially measured in 1 of the 2 patients. RESULTS: Urinary mevalonate levels were elevated in both girls. Patient 1 was heterozygous for a known MVK missense mutation (V377I) and a novel mutation that led to skipping of exon 3. Patient 2 was found to have V377I and a new missense mutation, S329R. Neither patient had mutations in TNFRSF1A or MEFV, the genes for the TNF receptor-associated periodic syndrome and familial mediterranean fever, respectively. Etanercept reduced the frequency and severity of symptoms in both patients, whereas the levels of serum IgD and urine mevalonate remained unchanged. CONCLUSION: Our favorable experience with etanercept for the treatment of HIDS suggests that further investigation of this therapy is warranted.- - - - - - - - - - ranking = 98032.053526135keywords = periodic fever syndrome, fever syndrome, periodic fever, fever (Clic here for more details about this article) |
7/44. Disseminated cryptosporidiosis in turkey: case report.cryptosporidium sp is a protozoan that displays an intracellular settlement primarily in the intestinal systems of humans and can result in diarrhoea. Undernourished children and persons with immunosuppression in developing countries are especially vulnerable to infection with this parasite. A 12-month-old female presented at Ege University, faculty of medicine, Department of Paediatrics with complaints of fever, diarrhoea, respiratory distress and growth-development retardation was diagnosed with CD40 deficiency (Hyper IgM Type 3). During the one year investigation process of the case with chronic diarrhoea and necrotic pneumonia, cryptosporidium sp oocysts were found in nine of the 22 faecal examinations and also in transtracheal aspiration liquid examined using the Kinyoun Acid-fast staining method. In conclusion, it is thought that cryptosporidiosis should also be considered in the distinct diagnosis of immunodeficient infants who are presented with respiratory and gastrointestinal system complaints.- - - - - - - - - - ranking = 1keywords = fever (Clic here for more details about this article) |
8/44. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome.Systemic reactive (AA) amyloidosis, leading to renal failure, is a severe complication of most hereditary periodic fever syndromes. The risk of developing this life-threatening condition varies widely among these disorders, being higher for patients affected by familial mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome. In spite of an acute-phase response during attacks, amyloidosis has never, to date, been described in patients affected with the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). This is the first report to describe the occurrence of renal AA amyloidosis causing severe nephrotic syndrome in a young Italian man affected with HIDS. The diagnosis of HIDS was established according to clinical, laboratory, and genetic criteria as required by the international Nijmegen HIDS registry. In this patient, 2 mutations in the mevalonate kinase gene were identified, one of which, the leucine-to-arginine substitution at codon 265, is novel.- - - - - - - - - - ranking = 117637.06423136keywords = periodic fever syndrome, fever syndrome, periodic fever, fever (Clic here for more details about this article) |
9/44. Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene on chromosome 12q24, which lead to a depressed enzymatic activity of mevalonate kinase (MK). TNF-receptor associated periodic syndrome (TRAPS), on the other hand, is the most frequent autosomal dominantly inherited periodic fever syndrome due to mutations in exons 2-4 and 6 of the TNFRSF1A gene on chromosome 12p13.2. We describe a girl with heterozygosity for the common MVK V377I mutation and for a novel T(1132) --> C transition, leading to the exchange of serine (TCC) by proline (CCC) at amino-acid position 378. Interestingly, our patient presented only with mild clinical features typical of HIDS and slightly increased immunoglobulin d levels, but a distinctly diminished MK activity. The girl was also heterozygous for the TNFRSF1A R92Q low-penetrance mutation, which may have significant proinflammatory effects. However, at the time of presentation, the patient had no TRAPS-associated symptoms.- - - - - - - - - - ranking = 39212.021410454keywords = periodic fever syndrome, fever syndrome, periodic fever, fever (Clic here for more details about this article) |
10/44. Hyperimmunoglobulinemia D syndrome in an Arab child.Hyperimmunoglobulinemia D syndrome (HIDS) is newly recognized and resembles familial mediterranean fever (FMF). It is inherited as an autosomal recessive trait. mutation of the gene coding for mevalonate kinase is responsible for the disease. The gene is located at chromosome 12q24. The patients initially described were of Dutch ancestry. Other cases from turkey and armenia were reported. The case we present is the first from Arab countries to be registered in the International HIDS Registry and to our knowledge the first to be reported.- - - - - - - - - - ranking = 1keywords = fever (Clic here for more details about this article) |
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