Search PubMed⌕ Search

Biomedical subjects

H Götze

Publications and source records attributed to H Götze.

At least 19 recordsLinked to original sources
PubMed1997

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

Fanconi-Bickel syndrome (FBS) is a rare autosomal-recessive inborn error of metabolism characterized by hepatorenal glycogen accumulation, Fanconi nephropathy and impaired utilization of glucose and galactose. To date, no underlying enzymatic defect in carbohydrate metabolism has been identified. Therefore, and because of the impairment of both glucose and galactose metabolism, a primary defect of monosaccharide transport across membranes has been suggested. Here we report mutations in the gene encoding the facilitative glucose transporter 2 (GLUT2) in three FBS families, including the original patient described in 1949 by Fanconi and Bickel. Homozygous mutations were found in affected individuals, whereas all parents tested were heterozygous for the respective mutation. Because all detected mutations (delta T446-449, C1251T and C1405T) predict truncated translation products that cannot be expected to have functional monosaccharide transport activity, GLUT2 mutations are probably the cause of FBS.

Consanguinity↗
PubMed1993

Orocaecal transit time in patients with Crohn disease.

Orocaecal transit time (OCTT) using the lactulose hydrogen breath test was investigated in 16 patients (age 10-19.4 years) with active Crohn disease (CD). Disease activity was assessed by the paediatric CD activity index (PCDAI). OCTT was prolonged in all patients (mean 149.9 min, SD 32.7) relative to healthy age-matched controls (mean 56.9 min, SD 11.1). PCDAI was increased (median 48.8, range 32.5), indicating moderate to severe disease in all patients. A close correlation between OCTT and PCDAI (Spearman r = 0.90) was observed. Following nutritional therapy with a semi-elemental diet over a period of 6 weeks OCTT and PCDAI declined, OCTT becoming normal in 4 and PCDAI in 4/12 patients respectively. OCTT provides a sensitive, non-invasive method for the assessment and followup investigations in patients with CD.

Adolescent↗
PubMed1992

[Fructose malabsorption and dysfunctional gastrointestinal manifestations].

BACKGROUND: Individuals with impaired intestinal absorption of fructose may exhibit recurrent abdominal discomfort after the ingestion of fructose-containing foods. We report on patients with this disorder in whom the diagnosis was made by the fructose hydrogen breath test. METHODS: We investigated 293 patients with recurrent abdominal pain, meteorism or diarrhea in connection with the ingestion of fruits, apple juice or soft drinks. Mixed expired air was collected before and at 30 minute intervals after a fructose load and analysed thereafter by a hydrogen sensitive electrochemical cell. Incomplete absorption of fructose was defined as a peak rise in breath hydrogen of > 20 ppm. RESULTS: 108 out of 293 patients showed an abnormal peak rise after fructose (mean 71.8 ppm, SD 31.4). This malabsorption of fructose was associated with clinical symptoms in 79 of them. Sensitivity and specificity of the fructose hydrogen breath test were 98 or 86 per cent respectively. 19 patients with an abnormal breath test and symptoms following fructose were reexamined after a load with equimolar concentrations of glucose and fructose. Hydrogen breath test was normal in all of them, none developed abdominal discomfort. CONCLUSION: A considerable number of individuals suffer from dysfunctional gastrointestinal problems due to fructose malabsorption. The fructose hydrogen breath test is a simple, sensitive and noninvasive method for the diagnosis for this disorder. Possible means of treatment are dietary fructose restriction or a modification of the diet in which fructose-containing foods are exchanged for those with equal concentrations of glucose and fructose.

Abdominal Pain↗
PubMed1986

[Methodological aspects of the use of the hydrogen (H2) breath test].

Normalization of the breath hydrogen (H2) concentration by simultaneous determination of breath carbon dioxide (CO2) and the addition of lactulose to a liquid meal have been recommended to improve the reproducibility of the hydrogen breath test. To assess the clinical relevance of these recommendations, we studied 64 children of 4 different age groups and 12 adults. Simultaneous determination of CO2 concentration and normalization of breath H2 resulted in a marked decrease of intestinal transit time and its variation in children; in adults, however, this correction was negligible. With lactulose alone, the mean coefficient of variation within individuals was only 11.7% and 13.2%, with and without H2 normalization, respectively. Therefore, the addition of a liquid meal does not seem to be necessary.

Adolescent↗
PubMed1984

[Protein-losing enteropathy following Fontan operation for a complex heart defect].

A 12 year old boy developed protein losing enteropathy 6 months after surgery for a severe cardiac malformation complex by a modified Fontan procedure. Gastrointestinal protein loss was due to sustained venous pressure elevation. Conservative therapy with diet, diuretics and albumininfusions remained ineffective. The patient died from right atrial and pulmonary thrombembolism 10 months after surgery.

Adolescent↗
PubMed1980

[Exocrine pancreatic insufficiency (author's transl)].

Exocrine pancreatic insufficiency usually does not develop before reduction of enzyme output by more than 90%. Patients with pancreatic insufficiency have a ravenous appetite but fail to thrive from malnutrition. The caloric deprivation is primarily due to fat malabsorption, recognized by the passage of bulky foul smelling greasy stools. Several isolated enzyme deficiencies can be separated from diseases with generalised pancreatic insufficiency. Under replacement therapy with pancreatic enzyme supplements most patients improve and gain weight, although fat and bile acid malabsorption are not abolished.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

[D-penicillamin-induced IgA-deficiency (author's transl)].

A 6 year old girl developed IgA-deficiency following treatment for chronic hepatitis with D-penicillamine. 4 months after discontinuation of the drug serum IgA and the number of circulating B-lymphocytes were still markedly reduced, in addition secretory IgA was diminished relative to secretory IgM. D-penicillamine should be used only if absolutely necessary and during treatment frequent monitoring of immunoglobulin levels becomes mandatory.

B-Lymphocytes↗
PubMed1979

[Traumatic pancreatic pseudocysts in childhood (author's transl)].

Two children had extensive resection of the pancreas due to a posttraumatic pseudocyst. Function of the endocrine and exocrine pancreas was reinvestigated following surgery and found to be normal. Based upon these observations pathogenesis, clinical and therapeutical aspects of pancreatic pseudocysts in childhood are reviewed.

Blood Glucose↗
PubMed1978

[Peptic ulcer in children: diagnosis and treatment (author's transl)].

Within a period of 14 years 23 children were treated for peptic ulcer (0.039% of all inpatients). Acute ulcers were seen in neonates or after major surgery, and were diagnosed only after perforation or bleeding. Chronic ulcers predominantly occurred after the sixth year. In addition to abdominal pain and colic, perforation and haemorrhage were also seen, the latter occasionally without previous symptoms. Three children were operated on for perforation, two for gastroduodenal haemorrhage. One of them, a neonate, died of septicaemia with subarachnoid haemorrhage. The bleedings were stopped by purse-string suture, the perforations by oversewing in two, local excision in one. Follow-up examination was undertaken in 14 of the 22 surviving children six months to 12 years after the initial manifestation. None had a recurrence. It is concluded that peptic ulcer is more frequent in children than is generally supposed. Treatment is mainly conservative. In case of perforation or haemorrhage the least possible surgical intervention should be practised.

Adolescent↗
PubMed1978

Amylase transport across ileal epithelium in vitro.

Amylase transport was measured across the rabbit ileum in vitro employing a modified Ussing chamber. Amylase was moved preferentially in the mucosal to serosal direction. Its rate of transfer was 2--3 orders of magnitude greater than that for inulin. Mucosal to serosal transport of exogenous amylase was completely inhibited in the absence of oxygen. There was also a constant release of endogenous amylase from intestinal tissue into both mucosal and serosal compartments in the absence of an exogenous source. An estimate of the rate of amylase absorption indicates that it may be of sufficient magnitude to account for the enteropancreatic circulation of amylase secreted by the pancreas during augmented secretion.

Amylases↗
PubMed1978

Studies on intestinal enzyme secretion; the action of cholecystokinin-pancreozymin, pentagastrin and bile.

Intravenous administration of 1 U cholecystokinin-pancreozymin (CCK-PZ) to rats caused the release of enteropeptidase, alkaline phosphatase (AP), and sucrase to the intestinal lumen in the absence of a concomitant increase in luminal DNA. Thus, the hormone elicited hydrolase secretion was not due to cell desquamation. Pentagastrin also stimulated hydrolase release. Following CCK-PZ administration enteropeptidase was released preferentially over sucrase and AP and showed a linear correlation with total protein output. The specific enteropeptidase activity was higher in the perfusate following secretion than in the mocosa. Enteropeptidase was found mainly in soluble form in both mucosa and perfusate; addition of bile following enteropeptidase release further increased its activity. In contrast, sucrase and AP were found mainly in insoluble form in both mucosa and perfusate and their specific activities were higher in the mucosa. The presence of bile rendered both sucrase and AP more soluble in the perfusate. The data indicate that enteropeptidase is released by a specific secretory process and that its subcellular site of origin is different from that of sucrase and AP. By eliciting the coordinated release of trypsinogen, enteropeptidase and bile, CCK-PZ plays a central role in the initiation of protein digestion.

Alkaline Phosphatase↗
PubMed1975

[Alpha 1-anti trypsin-deficiency: combination of pulmonary emphysema and liver cirrhosis in infancy (author's transl)].

The combination of pulmonary emphysema and liver cirrhosis in early childhood is documented for the first time in a 31/2 year old girl with homozygous (ZZ) deficiency of a1-antitrypsin. Examination of relatives in the generation of parents and grand parents revealed 7 heterozygous (MS) and five normal members (MM). Lung function tests showed altered respiratory function in 4 out of these 7 heterozygous subjects. Measurement of trypsin inhibitory capacity in plasma gave a good correlation to the genotype, however determinations of a1-antitrypsin coincided with it to a lesser degree. A high trypsin inhibitory capacity was detected in the tears of the propositi, which was shown to be immunologically distinguishable from serum a1-antitrypsin. Similarly, antiprotease activity was demonstrated in nasal secretions. This too did not reflect the serum profile.

Adult↗