A mellekvesekereg csokkent mukodeseben manifesztalodo juvenilis haemochromatosis

Translated title of the contribution: A case of juvenile haemochromatosis presenting adrenocortical insufficiency introduction

J. Várkonyi, J. P. Kaltwasser, C. Seidl, A. Tordai, H. Andrikovics, G. Kollai, G. Müzes, Z. Tulassay, L. Romics

Research output: Contribution to journalArticle

Abstract

INTRODUCTION - Juvenile haemochromatosis is a rare autosomally inherited disorder of iron metabolism causing severe iron overload in young adults. The organs mostly affected are liver, spleen, pancreas, heart and the skin similarly to the genetically also determined adult form. CASE REPORT - Contrary to most juvenile haemochromatosis cases characterised by secondary hypogonadotropic hypogonadism, this patient presented with adrenocortical insufficiency. Involvement of the heart was present on diagnosis while liver showed normal architecture without increased iron content. Genetic analysis revealed that the patient did not carry the C282Y mutation, while the H63D mutation was present in heterozygous form. With hormone supply and regular venasections the patient is free of complaints. CONCLUSION - This case demonstrates that severe iron overload can occur early in adult life without the presence of HFE gene mutations suggesting a putative gene defect responsible for juvenile haemochromatosis.

Original languageHungarian
Pages (from-to)126-129
Number of pages4
JournalLege Artis Medicinae
Volume10
Issue number2
Publication statusPublished - 2000

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Iron Overload
Mutation
Iron Metabolism Disorders
Hypogonadism
Liver
Genes
Young Adult
Pancreas
Spleen
Iron
Hormones
Skin
Type 2 Hemochromatosis

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A mellekvesekereg csokkent mukodeseben manifesztalodo juvenilis haemochromatosis. / Várkonyi, J.; Kaltwasser, J. P.; Seidl, C.; Tordai, A.; Andrikovics, H.; Kollai, G.; Müzes, G.; Tulassay, Z.; Romics, L.

In: Lege Artis Medicinae, Vol. 10, No. 2, 2000, p. 126-129.

Research output: Contribution to journalArticle

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AU - Kaltwasser, J. P.

AU - Seidl, C.

AU - Tordai, A.

AU - Andrikovics, H.

AU - Kollai, G.

AU - Müzes, G.

AU - Tulassay, Z.

AU - Romics, L.

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AB - INTRODUCTION - Juvenile haemochromatosis is a rare autosomally inherited disorder of iron metabolism causing severe iron overload in young adults. The organs mostly affected are liver, spleen, pancreas, heart and the skin similarly to the genetically also determined adult form. CASE REPORT - Contrary to most juvenile haemochromatosis cases characterised by secondary hypogonadotropic hypogonadism, this patient presented with adrenocortical insufficiency. Involvement of the heart was present on diagnosis while liver showed normal architecture without increased iron content. Genetic analysis revealed that the patient did not carry the C282Y mutation, while the H63D mutation was present in heterozygous form. With hormone supply and regular venasections the patient is free of complaints. CONCLUSION - This case demonstrates that severe iron overload can occur early in adult life without the presence of HFE gene mutations suggesting a putative gene defect responsible for juvenile haemochromatosis.

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KW - Juvenile haemochromatosis

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