MEFV mutations are more frequent in HSP than in the general population, and mutation carriers may have more severe clinical findings with higher inflammatory response, suggesting a dysregulation of the inflammatory response because of defective gene encoding the protein pyrine. Investigation of these mutations may be beneficial to follow-up the susceptible patients more closely leading to early diagnosis and treatment of FMF.
In this study we evaluated the indications, complications, and the spectrum of histopathological results of percutaneous renal needle biopsy (PRNB) performed in our clinic. Between June 1990 and December 2006, 679 PRNBs were performed on native kidneys of 614 children (304 boys, 310 girls) with a mean age of 10.4 years. Most frequent indications for PRNB were nephrotic syndrome (47%), hematuria, and/or proteinuria (15.9%), acute renal failure (14.6%) and complex renal manifestations (18.9%). The overall complication rate was 15.2%. The most common complications were perirenal hematoma (12.4%) and macroscopic hematuria (2.6%). The most frequent histopathological group of diseases were glomerulopathies; these were diagnosed in 376 patients (61.2%) and included membranoproliferative glomerulonephritis (11.1%), mesangial proliferation (10.7%), diffuse proliferative glomerulonephritis (7.7%), and focal segmental glomerulosclerosis (7.3%) as the most frequent. The second most frequent group of histopathology was manifestations secondary to systemic diseases; these were shown in 195 patients (31.8%). Amyloidosis (11.4%) and Henoch-Schönlein nephritis (9.9%) made the majority of this group. In conclusion, our study demonstrated that PRNB is a safe procedure with usually transient complications showing the most frequent renal diseases that cause diagnostic and therapeutic difficulties for pediatric nephrologists.
Summary: A high prevalence of inherited metabolic diseases is present in Turkey; at least in part, this is due to consanguineous marriages.The frequencies of mutant genes show remarkable variations from one country to another. In Turkey, marriages between relatives are relatively common and the frequency of autosomal recessive conditions would be expected to be high (Tungbilek and Ulusoy, 1989). A survey has therefore been carried out to determine the incidence of phenylketonuria (PKU) in order to assess the magnitude of the problem and to gain experience in screening organization in Turkey. Moreover, a group,of selected infants and children with motor and mental retardation (MMR) were also systematically investigated to document the prevalence of various inborn errors of metabolism as compared to PKU. This might lead us to a prenatal diagnostic approach to the diseases with the highest prevalence. We report here the results of this survey which give a picture of a developing partly Asian partly European country.
MATERIAL AND METHODSThe survey was carried out on the following groups of children: (a) High risk newborns and infants (b) Children with MMR (c) Elementary school students (for cystinuria) (d) Normal newborns (for PKU) Symptoms classifying infants as being at high risk were failure to feed, persistent vomiting, seizures, lethargy, coma, hypotonia/hypertonia, developmental delay and regression of developmental milestones, acidosis, persistent jaundice, unusual urine odour, failure to thrive, cataracts, and a history of a previous child with one of the inherited metabolic diseases.Systematic screening procedures were applied to selected infants. Their blood and urine amino acids were investigated by one or two-dimensional paper chromatography
Two hundred and twenty-eight patients with acute rheumatic fever (ARF), who were admitted to Dr Sami Ulus Children's Hospital between January 1990 and November 1992, were evaluated. Compared with the 1980s, an increase in the frequency of the disease was observed. The majority of patients (56.5%) were between 9 and 12 years old and 36.8% were admitted in winter. One hundred patients had arthritis only, 59 carditis and 40 chorea; 5 had carditis and chorea and 24 had arthritis and carditis. Nineteen percent of patients had a history of a previous attack. Seven of 84 patients with carditis had congestive heart failure and 2 had pericarditis. Cardiomegaly was present in 36 patients. The mitral valve was affected in 77 patients, tricuspid valve in 1 patient and both miral and aortic valves in 6 patients. One patient died as a result of severe congestive cardiac failure. Twenty-one patients had a recurrent attack. We observed that ARF is still a significant cause of morbidity in our country. As the disease is preventable by the eradication of streptococcus, we conclude that more effort should be made in the early detection and treatment of streptococcal infections.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.