BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical...BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical manifestations and pathogenesis of AS.This is the first report on the association between AS and Graves’hyperthyroidism.CASE SUMMARY An 8-year-old Chinese girl was diagnosed with AS.Two years later,Graves’hyperthyroidism developed with progressive liver dysfunction.The patient’s clinical data were collected;DNA from peripheral blood of the proband,parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes.The association between the patient’s genotype and clinical phenotype was analyzed.She carried the pathogenic compound heterozygous mutation of ALMS1(c.2296_2299del4 and c.11460C>A).These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSION The manifestation of hyperthyroidism may suggest rapid progression of AS.展开更多
文摘BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical manifestations and pathogenesis of AS.This is the first report on the association between AS and Graves’hyperthyroidism.CASE SUMMARY An 8-year-old Chinese girl was diagnosed with AS.Two years later,Graves’hyperthyroidism developed with progressive liver dysfunction.The patient’s clinical data were collected;DNA from peripheral blood of the proband,parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes.The association between the patient’s genotype and clinical phenotype was analyzed.She carried the pathogenic compound heterozygous mutation of ALMS1(c.2296_2299del4 and c.11460C>A).These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSION The manifestation of hyperthyroidism may suggest rapid progression of AS.
