Search results for "Renal biopsy"
showing 5 items of 15 documents
Genotype–phenotype correlation in a new Fabry-disease-causing mutation
2019
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical a…
P1025HISTOLOGICAL AND CLINICAL FINDINGS IN ADULT AUTOPSIES OF TYPE 2 DIABETES MELLITUS PATIENTS WITH OR WITHOUT DIABETIC KIDNEY DISEASE
2020
Abstract Background and Aims Few studies have analyzed early lesions of diabetic nephropathy (DN) in those patients who do not have clinical signs of this involvement, since the indication of renal biopsy is usually performed in patients with significant renal manifestations.The aim of the study was to analyze renal histological lesions from autopsies of diabetic patients with or without clinical expression of DN. Thus, we analyze their correlation according to the presence or absence of proteinuria (albumin/creatinine to ratio > 300). Autopsies from non-diabetic patients was used as a control group. Method Kidneys from autopsies of 21 patients with type 2 diabetes mellitus (T2DM) an…
CONGENITAL UNILATERAL URETEROPELVIC JUNCTION OBSTRUCTION:RENAL DAMAGE EVALUATION AND CORRELATION BETWEEN RENAL BIOPSY AND PRE-POSTOPERATIVE RADIONUCL…
2011
PURPOSE to correlate severity of UPJO with immunohistochemical findings and radionuclide renal scan split function (SF), to obtain indications and timing of surgical correction of congenital UPJO. MATERIAL AND METHODS 21 patients, 57-105 days old, were studied. UPJO was assessed by MAG 3 diuretic renography. Patients underwent biopsy at pyeloplasty. Histological and himmunoistochemical analysis for Bcl-KL, Bcl2, AKT-1, BAD, Bax, AIF, FAS FAS-L, H-TERT, Mib-1 and Nocth2 was performed. TUNEL technique was used to detect apoptotic nuclei. Severity of UPJO was assessed intraoperatively and histologically. Renography was repeated one year after surgery. RESULTS All patients showed half-time wash…
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
2012
Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We des…
Akute interstitielle Nephritis nach Piperacillin
1989
A 75-year-old woman developed fever, exanthema and nonoliguric renal failure 16 days after the beginning of Piperacillin treatment. Renal biopsy revealed lympho-plasmacellular acute interstitial nephritis (AIN). A lymphocyte-transformation-test showed significant stimulation of patient's lymphocytes by Piperacillin. Corticosteroid-therapy correlated to clinical and renal improvement. Nevertheless the patient died of foudroyant septicemia caused by E. coli. Our report describes the first immunologically documented case of AIN following Piperacillin treatment.