
Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogen
Het Bloom-syndroom (BS) is een zeldzame DNA-reparatiestoornis. Dit beeld kan op jonge leeftijd herkend worden aan de hand van de meest kenmerkende symptomen: pre- en postnatale groeiachterstand en een vlindervormig erytheem in het gelaat. De diagnose BS wordt niet altijd tijdig gesteld. We bespreken de symptomen die geleid hebben tot de diagnose bij zeven patienten met BS. Bij BS bestaat er een groot risico op het ontwikkelen van een maligniteit. Vanwege een mogelijk toegenomen risico op maligniteiten valt behandeling met groeihormoon bij BS te ontraden, omdat de voordelen van lengtewinst niet opwegen tegen het mogelijk extra risico op het ontwikkelen van een maligniteit.
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A Challenging diagnosis
Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is...
Lees meerRecommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
Abstract DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal- recessive manner, but...
Lees meerImmunodeficiency in Bloom’s Syndrome
Abstract Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLMgene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B...
Lees meerNieuws
A Challenging diagnosis
Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is...
Lees meerRecommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
Abstract DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal- recessive manner, but...
Lees meerImmunodeficiency in Bloom’s Syndrome
Abstract Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLMgene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B...
Lees meerContact
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Stichting Bloom Syndrome
Nistelrode, The Netherlands
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in the name of Stichting Bloom Syndrome, Nistelrode