Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

Line Brunemark Berg, Nils Thorm Milman, Lennart Friis-Hansen, Peter-Diedrich Mathias Jensen, Torben Fründ

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation 81 and 80%, plasma ferritin 3,671 and 1,356 microgram/l, liver iron content of 375 and 361 micromol/g dry weight, normal myocardial iron content. Their parents were both HJV heterozygous with normal iron status. The girls began phlebotomy treatment with favourable effect.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind175
Udgave nummer16
Sider (fra-til)1113-4
Antal sider2
ISSN0041-5782
StatusUdgivet - 15. apr. 2013
Udgivet eksterntJa

Fingeraftryk

Iron
Mutation
Iron Overload
Siblings
Parents
Weights and Measures
Liver

Emneord

  • Child
  • Female
  • GPI-Linked Proteins
  • Hemochromatosis
  • Homozygote
  • Humans
  • Iron Overload
  • Mutation
  • Phlebotomy
  • Treatment Outcome

Citer dette

Berg, L. B., Milman, N. T., Friis-Hansen, L., Jensen, P-D. M., & Fründ, T. (2013). Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. Ugeskrift for Laeger, 175(16), 1113-4.
Berg, Line Brunemark ; Milman, Nils Thorm ; Friis-Hansen, Lennart ; Jensen, Peter-Diedrich Mathias ; Fründ, Torben. / Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. I: Ugeskrift for Laeger. 2013 ; Bind 175, Nr. 16. s. 1113-4.
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title = "Juvenil h{\ae}mokromatose for{\aa}rsaget af homozygot Gly320Val-mutation p{\aa} h{\ae}mojuvelingenet",
abstract = "Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation 81 and 80{\%}, plasma ferritin 3,671 and 1,356 microgram/l, liver iron content of 375 and 361 micromol/g dry weight, normal myocardial iron content. Their parents were both HJV heterozygous with normal iron status. The girls began phlebotomy treatment with favourable effect.",
keywords = "Child, Female, GPI-Linked Proteins, Hemochromatosis, Homozygote, Humans, Iron Overload, Mutation, Phlebotomy, Treatment Outcome, Case Reports, Journal Article",
author = "Berg, {Line Brunemark} and Milman, {Nils Thorm} and Lennart Friis-Hansen and Jensen, {Peter-Diedrich Mathias} and Torben Fr{\"u}nd",
year = "2013",
month = "4",
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language = "Dansk",
volume = "175",
pages = "1113--4",
journal = "Ugeskrift for Laeger",
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Berg, LB, Milman, NT, Friis-Hansen, L, Jensen, P-DM & Fründ, T 2013, 'Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet', Ugeskrift for Laeger, bind 175, nr. 16, s. 1113-4.

Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. / Berg, Line Brunemark; Milman, Nils Thorm; Friis-Hansen, Lennart; Jensen, Peter-Diedrich Mathias; Fründ, Torben.

I: Ugeskrift for Laeger, Bind 175, Nr. 16, 15.04.2013, s. 1113-4.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

AU - Berg, Line Brunemark

AU - Milman, Nils Thorm

AU - Friis-Hansen, Lennart

AU - Jensen, Peter-Diedrich Mathias

AU - Fründ, Torben

PY - 2013/4/15

Y1 - 2013/4/15

N2 - Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation 81 and 80%, plasma ferritin 3,671 and 1,356 microgram/l, liver iron content of 375 and 361 micromol/g dry weight, normal myocardial iron content. Their parents were both HJV heterozygous with normal iron status. The girls began phlebotomy treatment with favourable effect.

AB - Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation 81 and 80%, plasma ferritin 3,671 and 1,356 microgram/l, liver iron content of 375 and 361 micromol/g dry weight, normal myocardial iron content. Their parents were both HJV heterozygous with normal iron status. The girls began phlebotomy treatment with favourable effect.

KW - Child

KW - Female

KW - GPI-Linked Proteins

KW - Hemochromatosis

KW - Homozygote

KW - Humans

KW - Iron Overload

KW - Mutation

KW - Phlebotomy

KW - Treatment Outcome

KW - Case Reports

KW - Journal Article

M3 - Tidsskriftartikel

VL - 175

SP - 1113

EP - 1114

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 16

ER -

Berg LB, Milman NT, Friis-Hansen L, Jensen P-DM, Fründ T. Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. Ugeskrift for Laeger. 2013 apr 15;175(16):1113-4.