Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B 12-mangel

Tina Lund Leunbach; Preben Johansen; Stephan M Tanner; Ralph Gräsbeck; Jon Helgestad

Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B 12-mangel

Tina Lund Leunbach, Preben Johansen, Stephan M Tanner, Ralph Gräsbeck, Jon Helgestad

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Abstract

A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.

Originalsprog	Dansk
Vol/bind	173
Sider (fra-til)	2047-8
Antal sider	2
ISSN	0041-5782
Status	Udgivet - 22 aug. 2011
Udgivet eksternt	Ja

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Citationsformater

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title = "Homozygot mutation i intrinsic factor-genet hos et barn med sv{\ae}r vitamin B 12-mangel",

abstract = "A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.",

author = "Leunbach, {Tina Lund} and Preben Johansen and Tanner, {Stephan M} and Ralph Gr{\"a}sbeck and Jon Helgestad",

year = "2011",

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language = "Dansk",

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TY - JOUR

T1 - Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B 12-mangel

AU - Leunbach, Tina Lund

AU - Johansen, Preben

AU - Tanner, Stephan M

AU - Gräsbeck, Ralph

AU - Helgestad, Jon

PY - 2011/8/22

Y1 - 2011/8/22

N2 - A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.

AB - A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.

M3 - Tidsskriftartikel

SN - 0041-5782

VL - 173

SP - 2047

EP - 2048

ER -