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

The Lowe syndrome, or oculocerebrorenal syndrome, is a rare X-linked recessive hereditary disease which typically involves three major systems including ocular defects (congenital cataracts, glaucoma, searching nystagmus), central nervous system defects (generalized hypotonia with decreased or absent deep tendon reflex and severe mental retardation), and renal dysfunction (progressive renal tubular dysfunction with acidosis and hyperaminoaciduria). Less than 200 cases have been reported in the English literatures since 1952. This article presents the first case of Lowe syndrome in Taiwan. Patient was a newborn who was born with congenital cataracts, glaucoma, generalized hypotonia with areflexia. In following laboratory studies showed early manifestations of renal tubular dysfunction with metabolic acidosis, proteinuria, glycosuria, phosphaturia and generalized hyperaminoaciduria (19 types). CT of brain showed an arachnoid cyst about 4.5 x 5 cm in size below the cerebellar tentorium. Large amount of copper, about 20-30 times above normal range, was detected in the urine. To our knowledge, Lowe syndrome associated with hypercupriuria and arachnoid cyst has not been reported in the past. Whether hypercupriuria is a part of the entity of this disease or prodromal stage of Wilson's disease is obscure. Further investigation and long-term observation are necessary to draw any conclusion.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[Lowe syndrome: report of one case]. 833 87

From January 1988 to Autumn 1991, 60 patients suffering from Kawasaki disease (KD) were recruited in this study. Their ages ranged from 4 months to 5 years. Diagnosis was based on the criteria revised in 1984 by the KD Research Committee in Japan. Of these, 12 cases developed coronary aneurysms. First, blood samples from 60 KD patients were taken on admission before aspirin and/or intravenous immunoglobulin (IVIG) treatment. Convalescent blood samples were taken 3 months after onset of disease. The control group included (1) 10 cases of viral infection with skin rash and fever (aged 5 months to 5 years) and (2) 10 age and sex matched normal children admitted for elective pediatric surgery such as inguinal hernia. Second, urinary samples were collected from 32 cases during the acute phase of KD. Of these, 10 cases had pyuria and/or proteinuria. The results showed that the serum IL-6 levels from KD patients during the first week of acute phase were significantly increased while undetectable in the convalescent sera and controls. There was also a statistical difference between the with and without coronary aneurysm groups during the first week (336.8 +/- 95.1 vs 125.5 +/- 56.5 pg/ml, P < 0.001). Urinary IL-6 levels were significantly elevated in KD patients with pyuria and/or proteinuria (156.6 +/- 77.7 pg/mg Cr) and undetectable in the group without pyuria and proteinuria and controls during the first week. There was no difference between with and without coronary aneurysm. These results suggest that serum IL-6 level is a useful factor for predicting formation of coronary aneurysm even within one week after onset of disease.(ABSTRACT TRUNCATED AT 250 WORDS)
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Serum and urinary interleukin-6 (IL-6) levels as predicting factors of Kawasaki disease activity. 837 75

A female, term neonate presented with generalized edema, heavy proteinuria, hypoalbuminemia and hyperlipidemia in the second week of life. The clinical and laboratory features were compatible with the diagnosis of congenital nephrotic syndrome. Treatment included albumin infusion, empirical penicillin, steroid and continuous arterio-venous hemofiltration. Intestinal perforation developed at the 19th day of age and led to a fatal outcome. At autopsy, thrombosis of the superior mesenteric artery and its branches was noted, and histology of the kidney was compatible with congenital nephrotic syndrome of the Finnish type. The risk of thromboembolism, arterial or venous, should be considered in patients with nephrotic syndrome, even in the neonatal period. Preventive measures, including avoiding volume depletion and femoral arterial/venous puncture, are essential in managing these patients. Prophylactic anticoagulation and infusion of fresh frozen plasma may be warranted to avoid such potentially lethal complications of thromboembolism.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Mesenteric arterial thrombosis complicating congenital nephrotic syndrome of Finnish type: report of one case. 859 34

To investigate the effects of intravenous immunoglobulin (IVIG) on patients of juvenile dermatomyositis (JDM), seven children with JDM were given monthly IVIG in conjunction with other treatments. The indications included disease exacerbation, inability to reduce dose of steroid, replacing cytotoxic drug because of complication and remission-induction for those with severe initial manifestations. Two patients were reported to improve slowly and maintained improved status while on a markedly reduced dose of steroid. One patient responded favorably to the first three courses only. Three patients had evident and quick responses, which could be seen as early as two or three days after the infusion. One patient failed to experience any beneficial effect by IVIG. Four initial responders had an aggravation some time after discontinuing the monthly regimen. The untoward reactions included only two occasions of fever, and another two occasions of fever associated with transient proteinuria. In conclusion, IVIG may be of value in terms of its quick, pulsatile effect and the adjuvant potential to reduce the side effect resulting from exposure to steroid or other immunosuppressive agents as well. However, its long-term efficacy is doubtful, based on this observation.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Intravenous immunoglobulin therapy in juvenile dermatomyositis. 915 63

We undertook a retrospective study to determine the proportion of patients in whom diagnostic and therapeutic changes were made as a result of renal biopsy. From April 1992 to March 1997, 111 renal biopsies were performed on 109 children aged 11 months to 18 years at our hospital. Adequate renal tissue was obtained in 106 cases (95.3%). Gross hematuria was observed in 12 cases (10.8%). Perirenal hematoma was found in 8 cases (7.2%) by ultrasound. A scoring system was designed to assess if diagnosis and therapy are affected as a result of renal biopsy. For diagnosis, the score was 0 when no additional information was obtained; 1 when the diagnosis was confirmed or ruled out; and 2 when the diagnosis was changed after biopsy or the pathologic findings provided a definite prognosis. For therapy, the score was 0 when the management was not changed after biopsy; 1 when the clinical diagnosis was confirmed and yielded a change in management; and 2 when the diagnosis and management were changed after biopsy. We found the benefit score for diagnosis was 0 in 2 (1.9%) of the 106 biopsied cases; 1 in 78 (73.6%), and 2 in 26 (24.5%). The benefit score for therapy was 0 in 62 (58.5%); 1 in 24 (22.6%); and 2 in 20 (18.9%). Therapeutic change always occurred in the biopsied patients with steroid resistant nephrotic syndrome and systemic diseases with renal involvement, and occasionally occurred in frequent relapsing nephrotic syndrome, steroid dependent nephrotic syndrome and asymptomatic proteinuria plus hematuria. It never occurred in patients with acute or chronic renal failure and hematuria. We conclude that renal biopsy is a safe and efficient procedure in pediatric patients. It can markedly change diagnosis and therapy, and can increase the likelihood for a more rational management of children with renal disease.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:The role of percutaneous renal biopsy in the diagnosis and management of renal diseases in children. 955 92

To further elucidate the role of dietary frying oil in the pathogenesis of autoimmune diseases, two groups of NZB/W F1 mice were fed with diets containing 20% fresh oil and frying oil, respectively. All these mice were followed up serum anit-DNA antibody levels, proteinuria and life span regularly. Our data suggested: 1) higher IgG anti-ss, dDNA antibody levels were noted in mice fed with fresh oil compared to those of the frying oil group; 2) lipopolysaccharide (LPS)-stimulated spleen cells of mice fed with frying oil produced higher IL-10 compared to that of fresh oil group; 3) IL-6, TNF-alpha and PGE2 produced by macrophages of dietary frying oil group were higher, although not statistically significant, than those of fresh oil group. Different degree of deterioration of dietary oil has been found to affect immune response in autoimmune mice.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1996 Aug
PMID:Dietary frying oil influences immune regulation in autoimmune-prone NZBxNZW F1 mice. 1059 94


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