Systematische Untersuchung zur Prävalenz der Hämochromatose bei Patienten mit primär nicht insulinpflichtigem Diabetes mellitus

Bei der hereditären Hämochromatose handelt es sich um eine angeborene Erkran-kung des Eisenstoffwechsels, die zu einer abnormen Erhöhung der interstinalen Eisenresorption führt. Sie zählt mit einer Prävalenz von bis zu 0,5 Prozent in der Allgemeinbevölkerung und bis zu 1,3 Prozent unter Diabetespati...

Full description

Saved in:
Bibliographic Details
Main Author: Stracke, Nadine
Contributors: Kann, Peter Herbert (Prof. Dr. Dr.) (Thesis advisor)
Format: Doctoral Thesis
Published: Philipps-Universität Marburg 2011
Online Access:PDF Full Text
Tags: Add Tag
No Tags, Be the first to tag this record!

Hereditary hemochromatosis is an autosomal recessiv disorder in which mutations in the HFE-gene cause increased iron absorption and irreversible tissue damage. The most frequent mutation is substitution of cysteine to tyrosine at amino acid 282 on the short arm of chromosome 6. Less frequent are the mutations H63D (histidine to asparagine at amino acid 63) and S65C (serine to cysteine at amino acid 65). The prevalence of hemochromatosis is described to be 0.5 percent in normal population and 1.3 percent in patients with diabetes mellitus. The clinical manifestation of iron accumulation include liver disease, skin pigmentation, diabetes mellitus, impotence, unfertility, arthropathy, heart failure. The main purpose of this study was to investigate how often patients with primary not insulin-dependent diabetes mellitus suffer from unknown hemochromatosis and which symptoms might give a hint at iron overload as original problem. Serum iron, serum ferritin, transferrin and transferrin saturation are measured, age, sex, height and weight are detected, furthermore clinical aspects are investigated by using a short questionnaire. Physical examination include skin pigmentation, magnitude of the liver, crepitation in the knee, arthropathy in the joints of the metacarpophalangeals of the second and third finger, range of motion in the hip. Finally - in case of suspision - genetic testing is performed. In this population of 297 patients two homocygous C282Y mutations, two heterocygous C2828Y mutations and four heterocygous mutations of H63D are detected. After a detailed analysis of the data the incidence of a big liver, liver disease, joint pain in the hip and knee as well as in the metacarpophalangeals of the second and the third finger is statistically significant for hemochromatosis. Although these results have to be affirmed by studies of larger scale, they give a first reference point which cheap and simple examinations are adequate to cause more cost-intensive examinations.