关键词: Alstrom综合征, 基因, 糖尿病

Abstract: ObjectiveTo report the diagnosis and treatment process of a patient with Alstrom syndrome to improve clinical understanding of this disease.MethodsAnalyze the clinical manifestations, laboratory tests, diagnosis, and treatment process of a patient with Alstrom syndrome admitted to our hospital in March 2023, and discuss them in combination with domestic and foreign literature. ResultsThe first symptom of the patient was nystagmus, and then the patient gradually appeared decreased vision and hearing, acanthosis nigricans, diabetes, hypertriglyceridemia, liver dysfunction, urinary protein, fatty liver, subclinical hypothyroidism, and candida albicans infectious vaginitis, etc.. The genetic results showed that there were two mutations in the ALMS1 gene, both of which were located in exon 8. The ALMS1 gene c.6316C>T(p.Gln2106Ter) heterozygous mutation was a nonsense mutation, resulting in the termination of protein coding at the 2 106th position of glutamine; ALMS1 gene c.4642_4658del(p.Arg1548Trpfs*4) heterozygous mutation, a frameshift mutation, resulted in the protein encoding arginine being replaced by tryptophan at the 1 548th position , and premature termination of the codon at position 3,which was ultimately diagnosed as Alstrom syndrome. This disease has been currently incurable and most treatments were symptomatic. ConclusionAlstrom syndrome is rare in clinical practice, with complex and diverse manifestations, which can easily lead to misdiagnosis and missed diagnosis. For diabetes patients with impaired vision and hearing, we should be alert to Alstrom syndrome, and carry out gene detection as early as possible to make a clear diagnosis and early intervention to improve the quality of life of patients.

Key words:

Alstrom syndrome, Genes, Diabetes