Franceschini P, Barisone E, Signorile F, Vardeau M P, Guala A, Franceschini D, Vivenza C, Bianchi M, Miniero R
Dipartimento di Scienze Pediatriche, University of Turin, Italy.
Panminerva Med. 1995 Dec;37(4):248-51.
In patients with lipodystrophies a post binding defect in insulin action has been described involving phosphorylation of the beta subunit of the insulin receptor, suggesting the presence of a genetically determined defect in insulin action; the receptor gene has been mapped to the distal short arm of chromosome 19 close to the break-point of a specific chromosome translocation frequently found in pre-B Acute Lymphoblastic Leukemia (ALL). We report on a 13 years old female patient with partial lipodystrophy, acanthosis nigricans and insulin resistance who developed a pre-B ALL. Since lipodystrophy and pre-B ALL are rare disorders, a possible causal relationship between the two diseases is suggested possibly mediated by a mutation in the insulin receptor gene.
在脂肪营养不良患者中，已描述了胰岛素作用的结合后缺陷，涉及胰岛素受体β亚基的磷酸化，提示存在胰岛素作用的基因决定缺陷；该受体基因已定位到19号染色体短臂远端，靠近在B前体急性淋巴细胞白血病（ALL）中常见的一种特定染色体易位的断点。我们报告了一名13岁的女性患者，患有部分脂肪营养不良、黑棘皮病和胰岛素抵抗，后来发展为B前体ALL。由于脂肪营养不良和B前体ALL是罕见疾病，提示这两种疾病之间可能存在因果关系，可能由胰岛素受体基因突变介导。
