共查询到20条相似文献,搜索用时 0 毫秒
1.
2.
3.
4.
5.
Congenital chylothorax in siblings 总被引:1,自引:0,他引:1
GF Fox D Challis KK O'Brien EN Kelly G Ryan 《Acta paediatrica (Oslo, Norway : 1992)》1998,87(9):1010-1012
We describe two cases of congenital chylothorax in siblings with important differences from previously described familial cases. Our findings support the likelihood of an autosomal recessive inheritance in some cases of this condition, rather than X-linked recessive inheritance, which has also been suggested. Autopsy findings from one of these cases and others previously described suggest that the pathophysiological mechanisms involved may be variable. 相似文献
6.
Congenital sensory neuropathy in siblings 总被引:4,自引:0,他引:4
7.
8.
9.
10.
Linna O Hyrynkangas K Kaukola T Pajunen L 《Acta paediatrica (Oslo, Norway : 1992)》2004,93(4):565-567
Subglottic stenosis in infants is mostly acquired (secondary) and caused by granulation tissue or submucosal mucous gland hyperplasia after prolonged endotracheal intubation. Subglottic stenosis may also be congenital (primary), and it usually occurs sporadically. There are some reports of its association with inherited anomalies, but there are no previous reports of its familial occurrence in otherwise healthy children. This report describes two pairs of siblings referred for acute inspiratory stridor in whom subglottic stenosis was diagnosed by endoscopy. They were all born at term, and their parents were unrelated. One child had an anteriorly located anus but no other abnormalities. CONCLUSION: Without any surgical intervention all had normal breathing at rest, but inspiratory stridor during respiratory infections and upon physical exercise at follow-up 4-9 y later. 相似文献
11.
12.
13.
B Lange K Hofweber R Waldherr K Schärer 《Acta paediatrica (Oslo, Norway : 1992)》1995,84(11):1325-1328
A 9-year-old boy with typical features of congenital erythropoietic porphyria who had received more than 50 blood transfusions developed the steroid-resistant nephrotic syndrome in the presence of normal glomerular function and glucosuria. Renal biopsy showed focal segmental glomerulosclerosis and widespread iron deposits. Magnetic resonance scanning revealed advanced siderosis of liver and kidneys. During a 4 year treatment by desferrioxamine the serum ferritin level was reduced, proteinuria dropped and serum proteins increased whilst glomerular filtration decreased slowly. It is suggested that the nephrotic syndrome may be a consequence of renal siderosis amenable to iron-chelating therapy. 相似文献
14.
15.
16.
B Amir E Deimer L Howanietz I Obiditsch-Mayer E Pichler A Pollak 《Klinische P?diatrie》1977,189(3):286-291
Report of 2 siblings, aged 12 1/2 and 9 years, with congenital hepatic fibrosis and polycystic disease of the kidneys. Hepatosplenomegaly had been noted in both children at birth. The younger child had suffered from oliguria aged 2 1/2 years. At diagnosis both children had low platelet counts, one also had leucopenia. The cystic disease of the kidneys was verified by angiography. Coeliacography and splenopartography were diagnostically irrelevant. The diagnosis only became apparent from liver biopsy which was performed during splenectomy. After splenectomy there was an increase of platelets, white blood cells and the clotting factors II, V and X. The three years follow-up showed a constancy of renal impairment and of the minor oesophageal varices observed in the one patient who did not have a spontaneous spleno-renal anastomosis. So far no bleeding has been observed. Porto caval anastomosis was omitted in both children. Pros and cons are being discussed. 相似文献
17.
18.
Three siblings with congenital lipodystrophy were studied extensively for endocrine abnormalities. A severe disturbance in carbohydrate metabolism was observed. Plasma concentrations of glucagon and insulin were markedly elevated both in the basal state and in response to provocative stimuli. In addition, marked resistance to exogenous insulin and a diabetic oral glucose tolerance test were demonstrated. Lipid metabolism, GH, and ACTH secretion were normal... 相似文献
19.
20.
Morava E Sengers R Ter Laak H Van Den Heuvel L Janssen A Trijbels F Cruysberg H Boelen C Smeitink J 《European journal of pediatrics》2004,163(8):467-471
We describe two siblings with a Sengers-like syndrome, who presented with congenital hypertrophic cardiomyopathy, infantile cataract, mitochondrial myopathy, lactic acidosis and normal mental development. A mitochondrial adenine nucleotide translocator 1 (ANT1) defect was detected since the ANT1 protein was not detectable by immmunoblotting in muscle samples of the patients. Additionally to these features of classical Sengers syndrome (OMIM 212350), we found that the mitochondrial oxidative phosphorylation, measured by biochemical analysis, was severely compromised in skeletal muscle in both children. Biochemical and morphological analysis of the fibroblasts revealed normal results. The association of significantly decreased pyruvate oxidation rates, deficient energy production and decreased multiple mitochondrial enzyme-complex activities in the muscle samples of our patients is a new finding which differs from previous results in patients with Sengers syndrome. Conclusion:we recommend a muscle biopsy and the biochemical analysis of the oxidative phosphorylation system in patients with muscle hypotonia, cardiomyopathy and congenital or infantile cataract.Abbreviations ANT1
adenine nucleotide translocator 1
- COX
cytochrome c oxidase
- SDH
succinate dehydrogenase 相似文献