Addison disease as presenting manifestation of one patient with adrenoleukodystrophy and identification of a novel ABCD1 gene mutation / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 829-833, 2019.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-796353
Biblioteca responsável:
WPRO
ABSTRACT
Objective@#To identify the clinical manifestations, imaging findings, and genetic mutation characteristics in a rare case of adrenoleukodystrophy(ALD)with adrenocortical dysfunction(Addison′s disease)as the first manifestation.@*Methods@#The clinical data of the proband and his family members were comprehensively collected, and ABCDl gene sequencing was meticulously performed for the proband and his mother using high-throughput sequencing method.@*Results@#The patient presented with systematical skin pigmentation accompanied by fatigue in early stage, arose stroke-like episodes manifested as a sudden loss of consciousness and incontinence induced by high fever, and followed by progressive unclear speech, unstable walking and worsening vision. Serum very long-chain fatty acid(VLCFA)concentration increased over normal range. The brain MRI showed an abnormal signal of the symmetric distribution of the bilateral corpus callosum. A new c. 874_876del GAG hemizygous variation in the patient′s ABCD1 gene was detected, while his mother had a nucleotide heterozygous variation to this site .@*Conclusion@#The diagnosis of ALD requires a combination of clinical manifestations, imaging examination, and serum VLCFA level measurement, while the detection of ABCD1 gene mutations is considered to be the most reliable approach.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Idioma:
Chinês
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2019
Tipo de documento:
Artigo