著者

Eri Katsuyama Ken-ei Sada Noriko Tatebe Haruki Watanabe Takayuki Katsuyama Mariko Narazaki Koichi Sugiyama Katsue S. Watanabe Hiroshi Wakabayashi Tomoko Kawabata Jun Wada Hirofumi Makino

出版者

一般社団法人 日本内科学会

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.55, no.8, pp.991-994, 2016 (Released:2016-04-15)

参考文献数

16

被引用文献数

8

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Idiopathic intracranial hypertension (IIH) is a syndrome of increased intracranial pressure and presents as an intractable headache, vomiting, and ophthalmologic manifestations. We herein report the case of a young girl who presented with bilateral abducens nerve palsy due to IIH as the onset of systemic lupus erythematosus (SLE). The patient was successfully treated with corticosteroid therapy. Our case lacked the typical symptoms of IIH, such as headache or nausea; therefore, it is necessary to carefully determine the cause of bilateral abducens nerve palsies. The development of IIH in SLE patients is a rare occurrence, but this manifestation should not be overlooked.

著者

Masayuki Kuroda Hideaki Bujo Koutaro Yokote Takeyoshi Murano Takashi Yamaguchi Masatsune Ogura Katsunori Ikewaki Masahiro Koseki Yasuo Takeuchi Atsuko Nakatsuka Mika Hori Kota Matsuki Takashi Miida Shinji Yokoyama Jun Wada Mariko Harada-Shiba on behalf of the Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health Labour and Welfare of Japan

出版者

Japan Atherosclerosis Society

雑誌

Journal of Atherosclerosis and Thrombosis (ISSN:13403478)

巻号頁・発行日

pp.RV17051, (Released:2021-04-18)

参考文献数

68

被引用文献数

7

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Lecithin cholesterol acyltransferase (LCAT) is a lipid-modification enzyme that catalyzes the transfer of the acyl chain from the second position of lecithin to the hydroxyl group of cholesterol (FC) on plasma lipoproteins to form cholesteryl acylester and lysolecithin. Familial LCAT deficiency is an intractable autosomal recessive disorder caused by inherited dysfunction of the LCAT enzyme. The disease appears in two different phenotypes depending on the position of the gene mutation: familial LCAT deficiency (FLD, OMIM 245900) that lacks esterification activity on both HDL and ApoB-containing lipoproteins, and fish-eye disease (FED, OMIM 136120) that lacks activity only on HDL. Impaired metabolism of cholesterol and phospholipids due to LCAT dysfunction results in abnormal concentrations, composition and morphology of plasma lipoproteins and further causes ectopic lipid accumulation and/or abnormal lipid composition in certain tissues/cells, and serious dysfunction and complications in certain organs. Marked reduction of plasma HDL-cholesterol (HDL-C) and corneal opacity are common clinical manifestations of FLD and FED. FLD is also accompanied by anemia, proteinuria and progressive renal failure that eventually requires hemodialysis. Replacement therapy with the LCAT enzyme should prevent progression of serious complications, particularly renal dysfunction and corneal opacity. A clinical research project aiming at gene/cell therapy is currently underway.

著者

Michiko Morishita Haruki Watanabe Minglu Yan Sonia Zeggar Sumie Hiramatsu Keiji Ohashi Yoshia Miyawaki Eri Katsuyama Takayuki Katsuyama Mariko Takano Narazaki Noriko Toyota Tatebe Katsue Sunahori Watanabe Tomoko Kawabata Ken-Ei Sada Jun Wada

出版者

一般社団法人 日本内科学会

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.56, no.13, pp.1645-1650, 2017-07-01 (Released:2017-07-01)

参考文献数

25

被引用文献数

2

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Objective To assess the safety of azathioprine (AZA) in Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV). Methods We retrospectively enrolled 67 consecutive AAV patients who had initiated AZA treatment from January 2006 to August 2014 at Okayama University Hospital. We evaluated the development of severe adverse events (AEs), AZA discontinuation due to total AEs (severe AEs included) within 1 year, and AZA-associated risk factors. Results The patients' median age was 70 years old. Forty-nine women and 18 men participated at the initiation of the study. Fifty-eight (87%) patients experienced AEs, and 36 experienced severe AEs (21 hepatic and 11 cytopenic severe AEs). Thirty-one (46%) patients discontinued treatment because of AEs. Abnormal hepatic laboratory test results at the treatment initiation were more frequent in patients with hepatic severe AEs and were associated with treatment discontinuation. The leukocyte and neutrophil counts at the treatment initiation were lower in the patients who discontinued treatment because of cytopenic AEs than in those who continued treatment. Only two patients experienced flare-ups during treatment. Conclusion The AE-associated AZA discontinuation rate in Japanese AAV patients was relatively high. AZA use warrants caution in patients with abnormal hepatic laboratory test results or low leukocyte or neutrophil counts.