Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of Farber disease (Farber lipogranulomatosis). The main features were a shrill voice, joint swelling, subcutaneous nodules and retarded psychomotor development. Cytological investigation revealed intracytoplasmic inclusion bodies characteristic of Farber disease. Lipid analysis of liver tissue indicated an accumulation of ceramide containing non-hydroxy fatty acids. It was found that the acid ceramidase activity in the liver was reduced to 31% of the control value. In this patient there was also persistent diarrhea, cholelithiasis, transient proteinuria and increased urinary total sialic acids. These features have not been noted in previously reported cases.
 ...
PMID:A case of Farber disease. 158 Jan 56

The outcome of kidney transplantation was evaluated in 246 nondiabetic, CsA-treated recipients of primary cadaver transplant, divided into 4 groups according to length of time on dialysis: group < or = 2, 0-24 months; group 2-5, 25-60 months; group 5-15, 61-180 months; group > 15, over 180 months. The 4 groups did not differ in graft survival, proteinuria (g/die), or estimated GFR values at 1, 2, 3, 4, and 5 years after grafting. They did not differ in the frequency of cataract, hip osteonecrosis, tumors, or posttransplant diabetes mellitus at 3 years after grafting. Ocular hypertone (p < 0.02), tendon ruptures (p < 0.001), arterial occlusive disease of lower limbs (p < 0.01), cholelithiasis (p < 0.05), and chronic hepatitis--which occurred only in anti-HCV and/or HBs Ag-positive patients--(p < 0.001), were more frequent in group > 15, and in all these cases but ocular hypertone a linear trend of increasing frequencies with increasing dialytic age was statistically significant. Group 5-15 had the lowest patient survival (p < 0.02). Moreover, a progressive decline of patient survival with increasing dialytic age was noted in groups < or = 2, 2-5, and 5-15. Unexpectedly, group > 15 had remarkably good survival, and this finding denies the hypothesis of a purely linear decline of patient survival after transplantation with increasing dialytic age.
 ...
PMID:Influence of length of time on dialysis before grafting on kidney transplant results. 872 66

The early detection of HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets) is the basic condition for immediate therapeutic management, which mainly leads to prompt delivery. The classical symptoms despite the typical laboratory evaluation (hemolysis, elevated liver enzymes, low platelets) are epigastric or right upper quadrant pain and nausea and vomiting; the classical signs of preeclampsia (proteinuria and hypertension) may be absent in 20%. The differential diagnostic problems of HELLP syndrome arise in relation to the mimicry-symptomatic: upper abdomen pain can imitate gastroenterologic diseases (e.g. cholelithiasis, appendicitis), the elevated liver enzymes combined with hyperbilirubinemia liver diseases (e.g. viral hepatitis) and thrombocytopenia in combination with hemolytic anemia, neurological symptoms and renal failure other similar pathogenetic disorders due to the category of thrombotic microangiopathies. Regarding the common symptoms thrombocytopenia, hemolysis as well as signs of preeclampsia with or without renal failure the differentiation from various autoimmune diseases also can be difficult in special cases. Rare first manifestations and serious simultaneous diseases which can overlay the typical signs of HELLP syndrome show the variety of HELLP syndrome. Interdisciplinary detours and delay are the consequences of this differential diagnostic problems, which could imply deleterious effects on the mother and the fetus, until the final diagnosis is clear. Therefore all pregnant women with upper abdomen pain irrespective of symptoms of preeclampsia should be considered to have HELLP syndrome and immediate laboratory evaluation has to be done. If there is any doubt a interdisciplinary consultation is required!
 ...
PMID:[Differential HELLP syndrome diagnosis]. 896 90

Sequelae of Escherichia coli O157:H7-associated hemolytic uremic syndrome (HUS) 2-3 years following an outbreak in Washington State have been prospectively studied to identify predictors of adverse sequelae. Logistic regression analysis was used to examine associations between findings in the acute course and long-term renal and gastrointestinal outcomes. Twenty-one percent of patients had gastrointestinal sequelae, which included cholelithiasis resulting in cholecystectomy (3/29), persistent pancreatitis (2/29), late colon stricture (1/29), and/or glucose intolerance (1/29). Logistic regression analysis found long-term gastrointestinal sequelae were higher in patients who, during HUS, had hypertension [odds ratio (OR) = 21.2, 95% confidence interval (CI) = 1.9-164.4, P = 0.01] or gastrointestinal complications (OR = 21.2, 95% CI = 1.9-164.4, P = 0.01). Renal sequelae were seen in 35% of patients. One patient (4%) had persistent hypertension and 9 (31%) had minor urinary findings (hematuria or proteinuria). Thrombocytopenia lasting longer than 10 days during the acute illness was associated with a risk for subsequent renal sequelae (OR = 15.0, 95% CI = 1.98-1,703.0, P = 0.009). We conclude a high incidence of gastrointestinal sequelae, especially cholelithiasis presenting long after the acute illness, may be seen with HUS. The short follow-up period may underestimate the extent and severity of eventual renal sequelae.
 ...
PMID:Cholelithiasis following Escherichia coli O157:H7-associated hemolytic uremic syndrome. 963 42

We encountered a patient with enterohemorrhagic Escherichia coli (EHEC) O157:H7 infection and secondary hemolytic uremic syndrome (HUS). The patient was a 79-year-old woman with hypertension, constipation, and asymptomatic cholelithiasis. She complained of nausea and abdominal pain, and had bloody stool EHEC O157 was detected by fecal culture. The bloody stool resolved after treatment with antibiotics, but the patient was hospitalized on July 23, 1996 because of abdominal distention. HUS was diagnosed because of proteinuria, hematuria, thrombocytopenia, hemolytic anemia, fragmentation of red blood cells, and increased serum LDH. Treatment was focused on plasma exchange, administration of antibiotics, large doses of gamma-globulin, haptoglobin replacement, and anticoagulation. Within about 2 weeks, the level of hemoglobin, the number of platelets, and the serum LDH had normalized, and the patient recovered from HUS. The decreased intestinal movement continued. On August 23, acute cholecystitis was diagnosed, and percutaneous transhepatic gall bladder drainage was done. Another exacerbation was noted on October 13, and cholecystectomy was done on November 12, when the patient's status had improved after instillation of antibiotics. Macroscopically, the gallbladder wall was thickened. Histopathological examination showed diffuse infiltration of lymphocytes into the mucosa, chronic cholecystitis was diagnosed. Because the postoperative course was satisfactory, the patient was discharged from the hospital on December 15. Acute exacerbation of chronic cholecystitis might have been caused by decreased cholic excretion after the marked decrease in intestinal movement due to O157 infection and secondary HUS. Because elderly people frequently have anamnesis of the digestive system, considerably attention should be paid to the management of anamnesis, as well as O157 infection and secondary HUS.
 ...
PMID:[Enterohemorrhagic Escherichia coli O157 infection in an elderly patient with secondary hemolytic uremic syndrome who developed recurrent acute exacerbation of chronic cholecystitis]. 977 57

Objective: Acute fatty liver of pregnancy (AFLP) is an uncommon, potentially fatal disorder that usually occurs in the late third trimester of pregnancy. We present the first reported case of acute fatty liver in the second trimester of pregnancy.Methods: We report the clinical and laboratory findings in a patient with AFLP who presented in the second trimester of pregnancy.Results: A 37-year-old G5P4 woman presented at 22 weeks gestation (by 18 weeks ultrasound) with nausea and vomiting. She was normotensive, had no proteinuria, had elevated SGOT and SGPT (266 and 261, respectively), negative hepatitis studies and a normal platelet count. She was managed conservatively for presumed cholelithiasis until 24 weeks gestation when she was transferred to our facility because of worsening SGPT and SGPT (368 and 505, respectively), jaundice (total bilirubin of 8.9 mg/dL), hypoglycemia, and laboratory evidence of disseminated intravascular coagulation (DIC) (PT = 18.6, PTT = 56, hypofibrinogenemia and presence of fibrin split products). Ultrasound showed singleton fetus (EFW 450 g) with total placenta previa. Computed tomography scan of the abdomen revealed decreased hepatic density consistent with AFLP. Delivery of a nonviable fetus was effected after transfusion of fresh frozen plasma. Postoperatively, the patient had rapid resolution of DIC, jaundice, and hypoglycemia; liver transaminases normalized 5 days postoperatively and the patient was discharged home in good condition 5 days later.Conclusion: It has been traditionally stated that AFLP occurs in the late third trimester of pregnancy. This case demonstrates that, even in the second trimester of pregnancy, the diagnosis of AFLP should be considered as a cause of deteriorating liver function, jaundice, and DIC.
 ...
PMID:Acute fatty liver in the second trimester of pregnancy. 1083 61

Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal period. She had subtle dysmorphic features. Liver function tests were impaired with raised liver enzymes, conjugated and unconjugated hyperbilirubinemia. CT of the brain showed diffuse bilateral changes. She developed seizures with an abnormal EEG. Plasma very long chain fatty acid analysis showed high C26:0 levels and increasedC26:0/C22:0 and C24:0/C22:0 ratios, which is consistent with a PBD. Studies in fibroblasts including plasmalogen biosynthesis, peroxisomal fatty acid alfa and beta oxidation confirmed the diagnosis of PBD. Immunofluoresence microscopy revealed the absence of peroxisomes in fibroblasts. The patient was assigned to the PEX19 complementation group. Subsequent mutation analysis of the PEX19 gene revealed homozygosity for a c.320delA frameshift mutation. The patient had a stormy course with multiple admissions to the pediatric intensive care unit with pneumonia, liver impairment, sepsis, and epilepsy. At 1 year of age she developed metabolic acidosis with normal anion gap, proteinuria, aminoaciduria, and glucosuria consistent with a renal tubular defect. Abdominal ultrasound showed multiple gallstones. Other causes of gallstones like haemoglobinopathy were excluded. So far, only two siblings had been reported with mutations in the PEX19 gene. Our patient showed a previously unrecognized association of gallstones and a renal tubular defect with a PBD.
 ...
PMID:A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. 2068 89

Shiga toxin-producing Escherichia coli (STEC) hemolytic uremic syndrome (HUS) is an important cause of acute kidney injury (AKI). The outcomes of STEC HUS have improved, and the acute mortality rate in children is 1-4%. About 70% of patients recover completely from the acute episode and the remainder have varying degrees of sequelae. Only a few retrospective studies have reviewed these patients over long periods. Methodological flaws include a lack of strict definitions, changing modes of treatment, ascertainment bias and loss of subjects to follow-up. The kidneys bear the brunt of the long-term damage: proteinuria (15-30% of cases); hypertension (5-15%); chronic kidney disease (CKD; 9-18%); and end-stage kidney disease (ESKD; 3%). A smaller number have extra-renal sequelae: colonic strictures, cholelithiasis, diabetes mellitus or brain injury. Most renal sequelae are minor abnormalities, such as treatable hypertension and/or variable proteinuria. Most of the patients who progress to ESKD do not recover normal renal function after the acute episode. Length of anuria (more than 10 days) and prolonged dialysis are the most important risk factors for a poor acute and long-term renal outcome. After the acute episode all patients must be followed for at least 5 years, and severely affected patients should be followed indefinitely if there is proteinuria, hypertension or a reduced glomerular filtration rate (GFR).
 ...
PMID:Long-term outcomes of Shiga toxin hemolytic uremic syndrome. 2328 50

Several cardiovascular (CV) risk factors may explain the high rate of CV death among patients with chronic kidney disease (CKD). Among them both traditional and uremia-related risk factors are implicated and, moreover, the presence of kidney disease represents "per se" a multiplier of CV risk. Plasma lipid and lipoprotein profiles are changed in quantitative, but above all in qualitative, structural, and functional ways, and lipoprotein metabolism is influenced by the progressive loss of renal function. Statin therapy significantly reduces cholesterol synthesis and both CV morbidity and mortality either directly, by reducing the lipid profile, or via pleiotropic effects; it is supposed to be able to reduce both the progression of CKD and also proteinuria. These observations derive from a post-hoc analysis of large trials conducted in the general population, but not in CKD patients. However, the recently published SHARP trial, including over 9200 patients, either on dialysis or pre-dialysis, showed that simvastatin plus ezetimibe, compared with placebo, was associated with a significant low-density lipoprotein cholesterol reduction and a 17% reduction in major atherosclerotic events. However, no benefit was observed in overall survival nor in preserving renal function in patients treated. These recent data reinforce the conviction among nephrologists to consider their patients at high CV risk and that lipid lowering drugs such as statins may represent an important tool in reducing atheromatous coronary disease which, however, represents only a third of CV deaths in patients with CKD. Therefore, statins have no protective effect among the remaining two-thirds of patients who suffer from sudden cardiac death due to arrhythmia or heart failure, prevalent among CKD patients. The safety of statins is demonstrated in CKD by several trials and recently confirmed by the largest SHARP trial, in terms of no increase in cancer incidence, muscle pain, creatine kinase levels, severe rhabdomyolysis, hepatitis, gallstones and pancreatitis; thus confirming the handiness of statins in CKD patients. Here we will review the latest data available concerning the effectiveness and safety of statin therapy in CKD patients.
...
PMID:Treatment of dyslipidemia in chronic kidney disease: Effectiveness and safety of statins. 2417 58