Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

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

Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

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

3 Citationer (Scopus)

Abstrakt

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.

Bidragets oversatte titel	Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	175
Udgave nummer	16
Sider (fra-til)	1113-4
Antal sider	2
ISSN	0041-5782
Status	Udgivet - 15 apr. 2013

Emneord

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

Citationsformater

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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",

author = "Berg, {Line Brunemark} and Milman, {Nils Thorm} and Lennart Friis-Hansen and Jensen, {Peter-Diedrich Mathias} and Fr{\"u}nd, {Ernst Torben}",

year = "2013",

month = apr,

day = "15",

language = "Dansk",

volume = "175",

pages = "1113--4",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "16",

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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, Ernst 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

M3 - Tidsskriftartikel

C2 - 23651750

VL - 175

SP - 1113

EP - 1114

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 16

ER -

Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

Abstrakt

Emneord

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Citationsformater