一个患有遗传性高磷脂酰胆碱溶血性贫血和血色素沉着症诱发的糖尿病的日本家族中的PIEZO1基因突变。
PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.
作者信息
Imashuku Shinsaku, Muramatsu Hideki, Sugihara Takashi, Okuno Yusuke, Wang Xinan, Yoshida Kenichi, Kato Ayako, Kato Koichi, Tatsumi Yasuaki, Hattori Ai, Kita Shinya, Oe Keishi, Sueyoshi Atsushi, Usui Takeshi, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Ogawa Seishi, Kojima Seiji, Kanno Hitoshi
机构信息
Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical Center, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto, 611-0041, Japan.
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
出版信息
Int J Hematol. 2016 Jul;104(1):125-9. doi: 10.1007/s12185-016-1970-x. Epub 2016 Mar 14.
Hereditary xerocytosis (HX) or dehydrated hereditary stomatocytosis (DHS) [OMIM 194380], in which PIEZO1 gene mutation has recently been identified, is difficult to diagnose. We report here the discovery of a PIEZO1 gene mutation in a Japanese family (father, daughter, and son) who were previously diagnosed with hereditary high phosphatidylcholine hemolytic anemia (HPCHA). All of the affected family members had non-spherocytic hemolytic anemia associated with severe hemochromatosis-related diabetes mellitus. Although the causative correlation between HPCHA and PIEZO1-gene mutated HX/DHS remains to be clarified, our findings raise an important question as to whether any of the HPCHA cases previously diagnosed in Japan may have in fact been the form of hemolytic anemia known as HX/DHS with PIEZO1 gene mutation.
遗传性口形细胞增多症（HX）或脱水遗传性口形细胞增多症（DHS）[OMIM 194380]，最近已鉴定出其存在PIEZO1基因突变，诊断较为困难。我们在此报告在一个日本家庭（父亲、女儿和儿子）中发现PIEZO1基因突变，该家庭之前被诊断为遗传性高磷脂酰胆碱溶血性贫血（HPCHA）。所有受影响的家庭成员均患有非球形细胞溶血性贫血，并伴有严重的血色素沉着症相关糖尿病。尽管HPCHA与PIEZO1基因突变的HX/DHS之间的因果关系仍有待阐明，但我们的研究结果提出了一个重要问题，即日本之前诊断的HPCHA病例中是否有实际上是PIEZO1基因突变的HX/DHS这种溶血性贫血形式。
Zotero 插件