Lege Artis Medicinae

[A case of juvenile haemochromatosis presenting adrenocortical insufficinecy ]

VÁRKONYI Andrea1, KOLLAI Géza1, ROMCSIK László1, MÜZES Györgyi2, TULASSAY Zsolt2, TORDAI Attila3, ANDRIKOVICS Hajnalka3, PETER Kaltwasser Joachim4, SEIDL Christian5

FEBRUARY 01, 2000

Lege Artis Medicinae - 2000;10(02)

[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 vena sections 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. ]

AFFILIATIONS

  1. III. Sz. Belgyógyászati Klinika, Szemmelweis Egyetem, Budapest
  2. II. Sz. Belgyógyászati Klinika, Szemmelweis Egyetem, Budapest
  3. Országos Hematológiai és Immunológiai Intézet, Budapest
  4. Division of Rheumatology, Centre of Internal Medicine, Johann Wolfgang Goethe University Frankfurt
  5. Institute of Immunohaematology and Transfusionmedicine, Red Cross Blood Donor Service Hessen, Frankfurt am Main, Germany

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