背景：年轻人的成熟型糖尿病包括大量的常染色体遗传基因突变。年轻亚型5的成熟型糖尿病是由HNF1B基因突变引起的。该基因在胰腺胚胎发育的早期表达，肾脏，肝脏,和生殖道；因此，肾脏或泌尿道畸形与糖尿病有关。17q12缺失综合征是应考虑的年轻亚型5的成熟型糖尿病的原因。
方法：我们介绍了一名35岁的西班牙裔女性患者，有双角子宫和多囊性肾病病史，需要进行肾脏移植。她有胰岛素依赖型糖尿病,和她的母亲,外婆,和曾祖母表现出相似的临床表现。分子分析显示染色体17q12缺失，涉及15个基因，包括HNF1B。因此,诊断为缺失综合征。
结论：17q12缺失综合征代表一种罕见的遗传综合征，涉及不同的基因，包括HNF1B。原则上,它的特点是泌尿生殖道畸形和糖尿病的组合，和我们的病人相似.
BACKGROUND: Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver, and genital tract; therefore, kidney or urinary tract malformations are associated with diabetes mellitus. The 17q12 deletion syndrome is a cause of maturity-onset diabetes of the young subtype 5 that should be considered.
METHODS: We present the
case of a 35-year-old Hispanic female patient with a history of bicornuate uterus and polycystic renal disease that required kidney transplant. She had insulin-dependent diabetes, with her mother, maternal grandmother, and great-grandmother showing a similar clinical manifestation. Molecular analysis showed a deletion in chromosome 17q12 involving 15 genes, including HNF1B. Therefore, a diagnosis of deletion syndrome was made.
CONCLUSIONS: The 17q12 deletion syndrome represents a rare genetic syndrome that involves different genes, including HNF1B. Principally, it is characterized by the combination of genitourinary tract malformations and diabetes mellitus, similar to our patient.
