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Biomedical subjects

D Feist

Publications and source records attributed to D Feist.

At least 19 recordsLinked to original sources
PubMed1999

Familial clustering of infantile cirrhosis in Northern Germany: A clue to the etiology of idiopathic copper toxicosis.

Two cases of infantile liver cirrhosis of unknown origin occurred in a circumscribed rural area of Northern Germany. Both children had increased dietary copper exposure. The search for additional cases of what appeared to be idiopathic copper toxicosis (ICT) revealed a cluster of affected infants in this region, raising questions about the relative importance of genetic and environmental factors that are considered to be etiologic. We gathered clinical and pathologic data concerning the patients, analyzed the pedigrees of affected families, and searched for possible environmental factors contributing to the pathologic process. We encountered 8 cases of infantile liver cirrhosis in 5 families in Emsland, a circumscribed and predominantly rural area of Northern Germany; ICT was definitely proven in 2 cases. Clinical presentation and liver pathology in 6 additional cases were consistent with the diagnosis of ICT. Pedigrees of affected families revealed complex relationships with occasional consanguinity of parents, suggesting autosomal recessive inheritance. The households were served by private wells with water of low pH flowing through copper pipes, suggesting the possibility of increased alimentary copper exposure. These findings support earlier conclusions that ICT develops when an infant with a genetic predisposition is exposed to a copper-enriched diet.

Age of Onset↗
PubMed1997

Proteinuria and other renal functions in Wilson's disease.

Renal lesions have repeatedly been described in Wilson's disease (WD). We investigated the excretion of total protein, albumin, low (LMW) and high molecular weight (HMW) proteins, N-acetyl-beta-D-glucosaminidase (NAG), and calcium, as well as creatinine clearance, in 24-h urine samples of 41 patients with WD aged 6-37 (mean 17) years who had been treated for a period of 0-15 (mean 4.5) years with D-penicillamine (900 mg/day). The amount of all protein excreted was significantly increased compared with controls, 39% of patients presenting with total proteinuria more than two standard deviations from the mean of controls. The changes in protein excretion depended on the duration of treatment. LMW proteinuria was elevated almost exclusively in the first 2 years after the start of treatment, indicating early tubular damage. This is supported by an initially high excretion of beta 2-microglobulin, NAG, and calcium. Increased excretion of HMW proteins, including albumin, persisted over longer periods, which suggests glomerular injury in some patients, possibly related to the use of D-penicillamine. Creatinine clearance remained roughly within normal limits. We propose that renal function should regularly be checked in patients with WD.

Acetylglucosamine↗
PubMed1996

Functional comparison of PML-type and archetype strains of JC virus.

Isolates of the human polyomavirus JC can be grouped as either PML-type or archetype strains primarily on the basis of divergence in their regulatory regions. Only PML-type viruses have so far been found to be associated with the human demyelinating disease progressive multifocal leukoencephalopathy. Here we have compared the functional properties of archetype and PML-type regulatory regions with regard to DNA replication and viral gene expression. No significant differences could be detected between archetype and PML-type regions in their ability to direct episomal DNA replication in the presence of JC virus T antigen. When viral gene expression was examined, early- and late-gene promoters from all PML-type strains exhibited a significantly higher activity in glial than in nonglial cells. Surprisingly, archetype strain promoters were also preferentially active in glial cells, although this effect was less pronounced than in PML-type strains. Furthermore, all promoters from archetype strains reacted to the presence of viral T antigen or the glial transcription factor Tst-1/Oct6 in a manner similar to the promoters of the PML-type viral strain Mad-1. Interestingly, T antigen and Tst-1/Oct6 were found to function in a species-specific and cell-type-specific manner, respectively. We concluded from our experiments that the differences in the regulatory regions cannot account for the different biology of archetype and PML-type viral strains.

Antigens, Polyomavirus Transforming↗
PubMed1995

Late diagnosis of Wilson's disease in a case without onset of symptoms.

Wilson's disease (WD) was diagnosed on the basis of a liver biopsy, blood investigations and a radio copper test in a 60-year-old, neurologically normal female with uncharacteristic gastrointestinal complaints. Since this patient never developed symptoms indicative for WD this case suggests the possibility of a subclinical course of untreated WD.

Biopsy↗
PubMed1991

Alteration of the lung parenchyma associated with autoimmune hepatitis.

The clinical history, radiological and histomorphological alterations of the lung parenchyma associated with chronic active autoimmune hepatitis are described. A 6-month-old female infant developed chronic active autoimmune hepatitis associated with autoimmune haemolytic anaemia. She was treated with immunosuppressive drugs, including steroids, for more than 6 years and developed symptoms and radiological signs of interstitial pneumonitis 4 years after onset of the autoimmune hepatitis. Associated bronchiectasis was detected 1 year later. No abnormalities of lung defence mechanisms could be demonstrated. Resection of the sixth left segment and of the basal parts of the left lower lobe revealed honeycombing with changes in the lung parenchyma which included chronic interstitial pneumonitis with multinucleate giant cells, seen predominantly in the distal airways, marked diffuse interstitial mononuclear infiltrates and mild diffuse interstitial fibrosis as well as bronchiectasis and organizing pneumonia. Granulomatous lesions, angiitis and necrotic areas were absent. Immunohistochemistry for immunoglobulins was negative for IgA, IgG and IgM and positive for IgD in the multinucleate giant cells. A strong positive reaction to HLA-DR-specific monoclonal antibody was noted, whereas no specific sugar receptors (endogenous lectins) could be detected by use of biotinylated glyconeoproteins.

Autoimmune Diseases↗
PubMed1991

[Fibrosing alveolitis in a 7-year-old girl with autoimmune hemolytic anemia and autoimmune hepatitis].

A Coombs-positive haemolytic anaemia with proof of heat autoagglutinins and autoantibodies against cell nuclei was diagnosed in a girl, now 7 1/2 years of age, in the sixth month of her life as a sequel to jaundice. Shortly afterwards liver biopsy yielded a confirmed diagnosis of giant cell hepatitis. The signs of the disease receded under treatment with decortin and imurek. An attempt to discontinue the medication at 5 1/2 years of age resulted in a histologically confirmed recurrence of autoimmune hepatitis. When the patient was 5 years old, the x-ray revealed a mainly interstitial pneumonia; at 6 years of age, bronchiectases in the region of the left lower lobe were confirmed by bronchography. Resection of the lower lobe was performed after occurrence of atelectasis. Histopathological findings confirmed fibrotic alveolitis associated with giant cells. Based on the overall clinical course and the histological and immunological findings, autoimmune etiology of fibrotic alveolitis must be discussed. Progression of the disease could be avoided during the past 6 months by intensifying the immunosuppressive prednisolone therapy.

Anemia, Hemolytic, Autoimmune↗
PubMed1990

[Clinical aspects, results of diagnostic pulmonary function tests and biochemical parameters in children with homozygote alpha-1-antitrypsin deficiency].

The clinical course and pulmonary function tests of individuals with severe Alpha-1-Antitrypsin (Alpha-1-AT) deficiency reveal a marked interindividual variability. 4 patients with PI type ZZ and 2 patients with PI type SZ had been identified by neonatal cholestasis. None had pulmonary symptoms at a mean age of 13 (range 9-16) years. Lung function tests disclosed signs of incipient pulmonary emphysema in one girl. Bronchial hyperreactivity had led to the diagnosis of Alpha-1 AT-deficiency (PI type ZZ) in another girl at the age of 7 years. The biochemical analysis of the serum of three children (two PI ZZ and one PI SZ) revealed additional protease inhibitors that may be effective as compensatory mechanisms. The lack of those protective factors as well as the presence of environmental hazards may contribute to the increased risk of emphysema in individual patients.

Adolescent↗
PubMed1987

Fanconi-Bickel syndrome.

Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased. Renal tubular dysfunction is characterized by a specific pattern of impaired proximal tubular transport mechanisms, with marked impairment of glucose transport. The utilization of glucose and galactose is defective, whereas fructose metabolism seems to be normal. Glycogenosis of the liver may be an epiphenomenon. Glycogen accumulation in the kidney is limited to the proximal tubule, with maximal levels in the straight part. The Fanconi-Bickel syndrome is a defined clinical entity which is distinguished from other inherited metabolic diseases by complex defects of renal tubular transport and other forms of glycogenosis.

Adolescent↗
PubMed1986

[Liver cirrhosis in childhood--etiology, diagnosis and conservative therapy].

Liver cirrhosis is relatively rare in children as compared to adults; frequently it is diagnosed too late. Biliary cirrhosis of early childhood is often the result of neonatal cholestatic syndromes. Beyond infancy, cirrhosis as a consequence of chronic active autoimmune hepatitis or of Wilson's disease may be prevented, if causal therapy is begun in time. Hence paediatricians should exclude both diseases in all children with elevated transaminases and clinical features of a liver disorder.

Autoimmune Diseases↗
PubMed1980

[Wilson' disease: rapid diagnosis and differentiation of heterozygous and homozygous carriers with 64CuCl2 (author's transl)].

In the modified radiocopper test, a constant amount of copper and not of radioactivity is injected, a difference being made between males and females. The rate of incorporation of 64Cu into caeruloplasmin and urinary excretion of nuclides is measured. It is a method with low radiation exposure, providing a definite diagnosis after 30 hours. This was demonstrated in 27 homozygous patients, 30 parents and 33 siblings, and 25 controls: a clear-cut diagnosis was made in all untreated homozygous patients. In five of eight patients treated with D-penicillamine for several years, the values were in the range of heterozygotes, so that the test makes treatment control possible. The recognition of heterozygous carriers is interfered with by contraceptives and infections. The results in control subjects were all widely outside the range for patients with Wilson's disease.

Adolescent↗
PubMed1980

[Hyper-immunoglobulin-prophylaxis and follow-up in vertical hepatitis B (author's transl)].

The vertical transmission of hepatitis-B virus from chronic HBsAg carrier mothers can cause acute even fatal hepatitis-B, or a chronic HBsAg carrier state in childhood. To prevent this vertical transmission, hepatitis-B- immunoglobulin (HB Ig) is applicated. Frequency and dosis-data are still confusing. Six children were passively immunized with HB Ig according to our schedule. Their serum was controlled for HBsAg and HBsAb with the RIA-method. None of these children became HBsAg positive.

Cesarean Section↗
PubMed1980

[The vertically transmitted hepatitis B (author's transl)].

The vertically transmitted hepatitis B in infancy, is not only due to an acute hepatitis B of the mother during pregnancy. We describe 9 cases of proven vertical transmitted hepatitis B, 2 of them with fatal outcome. 5 were delivered from chronic asymptomatic HBsAg positive mothers. We wish to emphasize again the importance of HBsAg screening in pregnancy and the prophylactic use of hyperimmune gamma-globulin in children born to HBsAg positive mothers.

Child, Preschool↗
PubMed1980

[Special problems of virus hepatitis B in pediatrics (author's transl)].

Virus hepatitis B occurs less frequently in infants and children than in adults; a subclinical and chronic course of this disease however seems to occur more often in childhood. Especially after oral infection the growing organism does not seem to be capable of building up a cellular immune response sufficient to eliminate the virus. If a woman becomes infected with hepatitis B during the last trimester of pregnancy of or immediately before delivery, the newborn has a chance of 80% to become infected during birth himself. This so called vertical transmission may be compared to a large transfusion of HBs-Ag-positive blood. Infection of the neonates will lead in most cases to a probably life-long HBs-Ag-carrier status. A fulminant, that is to say lethal course of acute hepatitis B in early infancy was found mostly in cases, where the mothers were carriers of high titer HBs-Ag without clinical symptoms whatsoever. For that reason immediate immune prophylaxis with anti HBs-globuline is mandatory in newborns with neonatal hepatitis B infection, whose mothers are HBs-Ag-positive.

Adult↗