ABSTRACT
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Here we report the existence of locus heterogeneity for this disease in the Argentinian population by performing linkage analysis on 12 families of Caucasian origin. Eleven families showed linkage to PKD 1 and one family showed linkage to PKD2. Two recombinants in the latter family placed the locus PKD2 proximal to D4S1563, in agreement with data recently published on the cloning of this gene. Analysis of clinical data suggests a milder ADPKD phenotype for the PKD2 family.
Subject(s)
Genetic Heterogeneity , Membrane Proteins/genetics , Polycystic Kidney, Autosomal Dominant/genetics , Proteins/genetics , Adolescent , Adult , Argentina , Child , Child, Preschool , Female , Genetic Linkage , Humans , Infant , Male , Pedigree , TRPP Cation Channels , White People/geneticsABSTRACT
Hepatitis B virus (HBV) is a high risk factor in the frequently found liver involvement of renal transplant recipients. As in other immunosuppressed patients, these often follow a course of slight jaundice, with a progressive tendency and great replicative and infectious power. Also, in addition to an increased incidence of chronic hepatitis (CH) in transplanted when compared with hemodialized patients, specially when HBsAg is present, it is surprising the poor correlation between enzyme levels and the grade of activity of the hepatic lesion. In a retro and prospective study, we present 52 patients of the 73 transplant reviewed. There are 32 men and 20 females, with and average age of 34 years, minimum time on dialysis of 2 months and maximum of 7 years, time of renal transplant from 6 moth to 15 years (average 4.9 years). There were 31 cadaver transplants and 21 live donors. The HBsAg was + in 20 (9 seroconverted), HBeAg was + in 4 (with 2 seroconvertions), hyperbilirrubinemia in 5, hyperalkaline phosphatasemia (2 or more times) in 11 and elevated serum transaminases (SGPT) (3 times or more) in 20 cases. Positive HBsAg plus SGPT x 3 was found on 9 occasions and positive HBsAg with SGPT x 3 in 3 cases. liver biopsy (LB), in those with enzymatic changes and/or positive antigenemia, was performed in 15 instances and there were 5 autopsies. The most important histological findings were: 5 acute viral hepatitis, 2 active chronic hepatitis (CAH), 2 persistent chronic hepatitis (CPH), 5 with fat infiltration and 4 with colestasis.(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Hepatitis B Surface Antigens/analysis , Hepatitis B virus/immunology , Kidney Transplantation , Female , Hepatitis B e Antigens/analysis , Humans , Male , Prospective Studies , Retrospective Studies , Transaminases/bloodABSTRACT
Hepatitis B virus (HBV) is a high risk factor in the frequently found liver involvement of renal transplant recipients. As in other immunosuppressed patients, these often follow a course of slight jaundice, with a progressive tendency and great replicative and infectious power. Also, in addition to an increased incidence of chronic hepatitis (CH) in transplanted when compared with hemodialized patients, specially when HBsAg is present, it is surprising the poor correlation between enzyme levels and the grade of activity of the hepatic lesion. In a retro and prospective study, we present 52 patients of the 73 transplant reviewed. There are 32 men and 20 females, with and average age of 34 years, minimum time on dialysis of 2 months and maximum of 7 years, time of renal transplant from 6 moth to 15 years (average 4.9 years). There were 31 cadaver transplants and 21 live donors. The HBsAg was + in 20 (9 seroconverted), HBeAg was + in 4 (with 2 seroconvertions), hyperbilirrubinemia in 5, hyperalkaline phosphatasemia (2 or more times) in 11 and elevated serum transaminases (SGPT) (3 times or more) in 20 cases. Positive HBsAg plus SGPT x 3 was found on 9 occasions and positive HBsAg with SGPT x 3 in 3 cases. liver biopsy (LB), in those with enzymatic changes and/or positive antigenemia, was performed in 15 instances and there were 5 autopsies. The most important histological findings were: 5 acute viral hepatitis, 2 active chronic hepatitis (CAH), 2 persistent chronic hepatitis (CPH), 5 with fat infiltration and 4 with colestasis.(ABSTRACT TRUNCATED AT 250 WORDS)
ABSTRACT
Previous studies from our laboratory demonstrated that net K secretion in human rectum was 2.5-fold higher in patients with chronic renal failure than in controls. The present study was performed to determine whether K secretion in human large intestine involves an active process and whether an active transport process accounts, at least in part, for the rise in net K secretion in patients with renal insufficiency. Studies were performed under conditions when net water and electrolyte transport approached zero, and the observed distribution of K and Na across the rectal mucosa was compared to expected equilibrium values. In control subjects an active transport of 27.6 +/- 2.6 mV was observed for K and 63 +/- 4.2 mV for Na. Similar values were demonstrated in patients with chronic renal failure. The results of these studies demonstrated that net secretion of K and absorption of Na are governed, at least in part, by active transport processes, and suggest that, since active K secretion is not impaired, the rise in net K secretion in patients with renal insufficiency is caused by active secretion as well as by passive driving forces.
Subject(s)
Kidney Failure, Chronic/metabolism , Potassium/metabolism , Biological Transport, Active , Body Water/metabolism , Colon/metabolism , Dialysis/instrumentation , Humans , Membrane Potentials , Sodium/metabolismABSTRACT
Previous studies have shown that the intestinal excretion of potassium increases in patients with renal failure and serves to guard against severe potassium retention. It is not known, however, whether the rise in intestinal potassium excretion occurs because of an increase in intestinal potassium secretion or a reduction in potassium absorption. Therefore, studies were performed to evaluate the rate of potassium secretion in the human rectum of controls and subjects with renal insufficiency, using a dialysis bag technique. The results demonstrate that net potassium secretion was increased in subjects with renal failure (-5.2 +/- 0.9 microEq X min-1) compared with the control value of -2.0 +/- 0.4 microEq (P less than .05). This change in intestinal secretion of potassium was shown to be independent of the passive effects of plasma potassium. The rise in potassium secretion, however, correlated directly with an increase in transepithelial potential difference (lumen-negative). Although plasma aldosterone levels were higher in patients than in controls, the scatter of data precludes an assessment of the role of aldosterone in the mechanism of the rise in potassium secretion. These data suggest that augmented intestinal potassium excretion in patients with chronic renal insufficiency is caused by increased net potassium secretion in the large intestine, and highlight the role of the intestine in maintaining potassium balance.
