腎臓・代謝・内分泌
学校検尿が普及したわが国では、小児の慢性糸球体腎炎は比較的早期に発見される頻度の高い疾患です。また、ネフローゼ症候群も頻度の高い小児腎疾患ですが、いずれも発症・進展のメカニズムは十分に解明されていません。近年、臨床試験に基づく治療法の開発が進んでいますが、治療に用いられる治療薬がなぜ有効であるのか、その作用機序も明らかではないのが現状です。このような背景のもと、腎臓分野では、主に慢性糸球体腎炎およびネフローゼ症候群患者の臨床検体を用いた研究を行っております。
先天代謝異常症とは、生まれつき特定の酵素が障害されているために、体に必要な物質を作れなかったり、いらない物質を除去できなかったりすることで様々な臨床症状を示す病気です。
当科は愛知県で唯一の先天代謝異常症専門施設で、フェニルケトン尿症、メープルシロップ尿症などのアミノ酸代謝異常症、プロピオン酸血症、メチルマロン酸血症などの有機酸代謝異常症、糖原病、ムコ多糖症、ミトコンドリア病、核酸代謝異常症、ウィルソン病、ゴーシュ病、メンケス病など、種々の先天代謝異常症の患者さんの診療に取り組んでおり、これら疾患に関連した研究も行っています。
先天代謝異常症とは、生まれつき特定の酵素が障害されているために、体に必要な物質を作れなかったり、いらない物質を除去できなかったりすることで様々な臨床症状を示す病気です。
当科は愛知県で唯一の先天代謝異常症専門施設で、フェニルケトン尿症、メープルシロップ尿症などのアミノ酸代謝異常症、プロピオン酸血症、メチルマロン酸血症などの有機酸代謝異常症、糖原病、ムコ多糖症、ミトコンドリア病、核酸代謝異常症、ウィルソン病、ゴーシュ病、メンケス病など、種々の先天代謝異常症の患者さんの診療に取り組んでおり、これら疾患に関連した研究も行っています。
スタッフ
- 伊藤哲哉（教授）
- 水野晴夫（教授）
- 池住洋平（准教授）
- 中島葉子（准教授）
- 熊谷直憲（講師）
- 松本祐嗣（ばんたね病院 助教）
- 近藤朋実（助教）
- 安田泰明（助教）
- 高尾洋輝（助教）
- 須藤湧汰（助教）
- 安藤拓摩（助教）
業績（過去3年間 英文）
Transient Type 3 Renal Tubular Acidosis during Cyclic Vomiting Syndrome. Kumagai N, Kondoh T, Matsumoto Y, Ikezumi Y. Tohoku J Exp Med. 2022 May 28;257(1):73-76. doi: 10.1620/tjem.2022.J015. Epub 2022 Mar 31.
A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report. Kumagai N, Matsumoto Y, Kondoh T, Ikezumi Y. Hum Genome Var. 2022 Aug 31;9(1):30. doi: 10.1038/s41439-022-00209-6.
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion. Matsumoto Y, Ikezumi Y, Kondoh T, Yokoi K, Nakajima Y, Kumagai N, Kato T, Kurahashi H, Ito T. Tohoku J Exp Med. 2022 Oct 25;258(3):183-193. doi: 10.1620/tjem.2022.J076. Epub 2022 Sep 8.
Mizoribine halts kidney fibrosis in childhood IgA nephropathy: association with modulation of M2-type macrophages. Ikezumi Y, Yoshikane M, Kondoh T, Matsumoto Y, Kumagai N, Kaneko M, Hasegawa H, Yamada T, Suzuki T, Nikolic-Paterson DJ. Pediatr Nephrol. 2022 Nov 10. doi: 10.1007/s00467-022-05786-w. Online ahead of print.
Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. Maruwaka K, Nakajima Y, Yamada T, Tanaka T, Kosaki R, Inagaki H, Kosaki K, Kurahashi H. Am J Med Genet A. 2022 Jul;188(7):2246-2250.
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. Yokoi K, Nakajima Y, Sudo Y, Mariya T, Kawamura R, Tsutsumi M, Inagaki H, Yoshikawa T, Ito T, Kurahashi H. JIMD Rep. 2022 Sep 20;63(6):575-580. doi: 10.1002/jmd2.12333. eCollection 2022 Nov.
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion. Matsumoto Y, Ikezumi Y, Kondoh T, Yokoi K, Nakajima Y, Kumagai N, Kato T, Kurahashi H, Ito T. Tohoku J Exp Med. 2022 Oct 25;258(3):183-193. doi: 10.1620/tjem.2022.J076. Epub 2022 Sep 8.
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report. Yokoi K, Nakajima Y, Takahashi Y, Hamajima T, Tajima G, Saito K, Miyai S, Inagaki H, Yoshikawa T, Kurahashi H, Ito T. JIMD Rep. 2022 Oct 27;64(1):3-9. doi: 10.1002/jmd2.12275. eCollection 2023 Jan.
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan. Wakamatsu M, Kojima D, Muramatsu H, Okuno Y, Kataoka S, Nakamura F, Sakai Y, Tsuge I, Ito T, Ueda K, Saito A, Morihana E, Ito Y, Ohashi N, Tanaka M, Tanaka T, Kojima S, Nakajima Y, Ito T, Takahashi Y. J Clin Immunol. 2022 Nov;42(8):1696-1707.
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant. Ishida A, Mizuno H, Aoyama K, Sasaki S, Negishi Y, Arakawa T, Mori T. Clin Pediatr Endocrinol. 2022;31(1):44-49. doi: 10.1297/cpe.2021-0029. Epub 2021 Nov 1.
The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice. Yamaguchi N, Suzuki A, Yoshida A, Tanaka T, Aoyama K, Oishi H, Hara Y, Ogi T, Amano I, Kameo S, Koibuchi N, Shibata Y, Ugawa S, Mizuno H, Saitoh S. Sci Rep. 2022 Jul 4;12(1):11259. doi: 10.1038/s41598-022-15151-4.
Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes. Kondoh T, Nakajima Y, Yokoi K, Matsumoto Y, Inagaki H, Kato T, Nakajima Y, Ito T, Yoshikawa T, Kurahashi H. Tohoku J Exp Med. 2022 Jan;256(1):37-41. doi: 10.1620/tjem.256.37.
Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders. Nakajima Y, Osaka S, Mizuno T, Yokoi K, Nakano S, Hirai S, Hiraoka Y, Miura Y, Suzuki M, Kusuhara H, Hayashi H. Mol Genet Metab Rep. 2021 Sep 4;29:100799. doi: 10.1016/j.ymgmr.2021.100799. eCollection 2021 Dec.
Current status of surviving patients with arginase 1 deficiency in Japan. Kido J, Matsumoto S, Takeshita E, Hayasaka C, Yamada K, Kagawa J, Nakajima Y, Ito T, Iijima H, Endo F, Nakamura K.
Mol Genet Metab Rep. 2021 Oct 1;29:100805. doi: 10.1016/j.ymgmr.2021.100805. eCollection 2021 Dec.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan. Kido J, Matsumoto S, Häberle J, Nakajima Y, Wada Y, Mochizuki N, Murayama K, Lee T, Mochizuki H, Watanabe Y, Horikawa R, Kasahara M, Nakamura K. J Inherit Metab Dis. 2021 Jul;44(4):826-837. doi: 10.1002/jimd.12384. Epub 2021 Apr 18.
Mycophenolate mofetil after rituximab for childhood-onset complicated frequently-relapsing or steroid-dependent nephrotic syndrome. Iijima K, Sako M, Oba M, Tanaka S, Hamada R, Sakai T, Ohwada Y, Ninchoji T, Yamamura T, Machida H, Shima Y, Tanaka R, Kaito H, Araki Y, Morohashi T, Kumagai N, Gotoh Y, Ikezumi Y, Kubota T, Kamei K, Fujita N, Ohtsuka Y, Okamoto T, Yamada T, Tanaka E, Shimizu M, Horinouchi T, Konishi A, Omori T, Nakanishi K, Ishikura K, Ito S, Nakamura H, Nozu K; Japanese Study Group of Kidney Disease in Children. J Am Soc Nephrol. 2022 Feb;33(2):401-419. doi: 10.1681/ASN.2021050643. Epub 2021 Dec 8.
Novel ARG1 variants identified in a patient with arginase 1 deficiency. Yokoi K, Nakajima Y, Yasui T, Yoshino M, Yoshikawa T, Kurahashi H, Ito T. Hum Genome Var. 2021 Feb 4;8(1):8. doi: 10.1038/s41439-021-00139-9.
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism. Tanaka T, Aoyama K, Suzuki A, Saitoh S, Mizuno H. J Pediatr Endocrinol Metab. 2020 May 29;33(6):691-701.
Steroid treatment promotes an M2 anti-inflammatory macrophage phenotype in childhood lupus nephritis. Ikezumi Y, Kondoh T, Matsumoto Y, Kumagai N, Kaneko M, Hasegawa H, Yamada T, Kaneko U, Nikolic-Paterson DJ. Pediatr Nephrol. 2021 Feb;36(2):349-359. doi: 10.1007/s00467-020-04734-w. Epub 2020 Sep 1.
Management of a Preterm Infant with Renal Tubular Dysgenesis: A Case Report and Review of the Literature. Kondoh T, Kawai Y, Matsumoto Y, Kumagai N, Miyata M, Tanaka K, Hibino S, Fujita N, Ikezumi Y. Tohoku J Exp Med. 2020 Sep;252(1):9-14.
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations. Ago Y, Otsuka H, Sasai H, Abdelkreem E, Nakama M, Aoyama Y, Matsumoto H, Fujiki R, Ohara O, Akiyama K, Fukui K, Watanabe Y, Nakajima Y, Ohnishi H, Ito T, Fukao T. Exp Ther Med. 2020 Nov;20(5):39.
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Kishita Y, Shimura M, Kohda M, Akita M, Imai-Okazaki A, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y. Mol Genet Genomic Med. 2020 Oct;8(10):e1427.
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia. Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Genet Med. 2020 Jul;22(7):1281.
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase. Ota S, Noguchi A, Kondo D, Nakajima Y, Ito T, Arai H, Takahashi T. Tohoku J Exp Med. 2020 Jan;250(1):5-11.
Impact of DPYD, DPYS and UPB1 Gene Variations on Severe Drug-Related Toxicity in Cancer Patients. Yokoi K, Nakajima Y, Matsuoka H, Shinkai Y, Ishihara T, Maeda Y, Kato T, Katsuno H, Masumori K, Kawada K, Yoshikawa T, Ito T, Kurahashi H. Cancer Sci. 2020 Jul 3.
A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report. Kumagai N, Matsumoto Y, Kondoh T, Ikezumi Y. Hum Genome Var. 2022 Aug 31;9(1):30. doi: 10.1038/s41439-022-00209-6.
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion. Matsumoto Y, Ikezumi Y, Kondoh T, Yokoi K, Nakajima Y, Kumagai N, Kato T, Kurahashi H, Ito T. Tohoku J Exp Med. 2022 Oct 25;258(3):183-193. doi: 10.1620/tjem.2022.J076. Epub 2022 Sep 8.
Mizoribine halts kidney fibrosis in childhood IgA nephropathy: association with modulation of M2-type macrophages. Ikezumi Y, Yoshikane M, Kondoh T, Matsumoto Y, Kumagai N, Kaneko M, Hasegawa H, Yamada T, Suzuki T, Nikolic-Paterson DJ. Pediatr Nephrol. 2022 Nov 10. doi: 10.1007/s00467-022-05786-w. Online ahead of print.
Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. Maruwaka K, Nakajima Y, Yamada T, Tanaka T, Kosaki R, Inagaki H, Kosaki K, Kurahashi H. Am J Med Genet A. 2022 Jul;188(7):2246-2250.
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. Yokoi K, Nakajima Y, Sudo Y, Mariya T, Kawamura R, Tsutsumi M, Inagaki H, Yoshikawa T, Ito T, Kurahashi H. JIMD Rep. 2022 Sep 20;63(6):575-580. doi: 10.1002/jmd2.12333. eCollection 2022 Nov.
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion. Matsumoto Y, Ikezumi Y, Kondoh T, Yokoi K, Nakajima Y, Kumagai N, Kato T, Kurahashi H, Ito T. Tohoku J Exp Med. 2022 Oct 25;258(3):183-193. doi: 10.1620/tjem.2022.J076. Epub 2022 Sep 8.
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report. Yokoi K, Nakajima Y, Takahashi Y, Hamajima T, Tajima G, Saito K, Miyai S, Inagaki H, Yoshikawa T, Kurahashi H, Ito T. JIMD Rep. 2022 Oct 27;64(1):3-9. doi: 10.1002/jmd2.12275. eCollection 2023 Jan.
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan. Wakamatsu M, Kojima D, Muramatsu H, Okuno Y, Kataoka S, Nakamura F, Sakai Y, Tsuge I, Ito T, Ueda K, Saito A, Morihana E, Ito Y, Ohashi N, Tanaka M, Tanaka T, Kojima S, Nakajima Y, Ito T, Takahashi Y. J Clin Immunol. 2022 Nov;42(8):1696-1707.
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant. Ishida A, Mizuno H, Aoyama K, Sasaki S, Negishi Y, Arakawa T, Mori T. Clin Pediatr Endocrinol. 2022;31(1):44-49. doi: 10.1297/cpe.2021-0029. Epub 2021 Nov 1.
The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice. Yamaguchi N, Suzuki A, Yoshida A, Tanaka T, Aoyama K, Oishi H, Hara Y, Ogi T, Amano I, Kameo S, Koibuchi N, Shibata Y, Ugawa S, Mizuno H, Saitoh S. Sci Rep. 2022 Jul 4;12(1):11259. doi: 10.1038/s41598-022-15151-4.
Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes. Kondoh T, Nakajima Y, Yokoi K, Matsumoto Y, Inagaki H, Kato T, Nakajima Y, Ito T, Yoshikawa T, Kurahashi H. Tohoku J Exp Med. 2022 Jan;256(1):37-41. doi: 10.1620/tjem.256.37.
Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders. Nakajima Y, Osaka S, Mizuno T, Yokoi K, Nakano S, Hirai S, Hiraoka Y, Miura Y, Suzuki M, Kusuhara H, Hayashi H. Mol Genet Metab Rep. 2021 Sep 4;29:100799. doi: 10.1016/j.ymgmr.2021.100799. eCollection 2021 Dec.
Current status of surviving patients with arginase 1 deficiency in Japan. Kido J, Matsumoto S, Takeshita E, Hayasaka C, Yamada K, Kagawa J, Nakajima Y, Ito T, Iijima H, Endo F, Nakamura K.
Mol Genet Metab Rep. 2021 Oct 1;29:100805. doi: 10.1016/j.ymgmr.2021.100805. eCollection 2021 Dec.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan. Kido J, Matsumoto S, Häberle J, Nakajima Y, Wada Y, Mochizuki N, Murayama K, Lee T, Mochizuki H, Watanabe Y, Horikawa R, Kasahara M, Nakamura K. J Inherit Metab Dis. 2021 Jul;44(4):826-837. doi: 10.1002/jimd.12384. Epub 2021 Apr 18.
Mycophenolate mofetil after rituximab for childhood-onset complicated frequently-relapsing or steroid-dependent nephrotic syndrome. Iijima K, Sako M, Oba M, Tanaka S, Hamada R, Sakai T, Ohwada Y, Ninchoji T, Yamamura T, Machida H, Shima Y, Tanaka R, Kaito H, Araki Y, Morohashi T, Kumagai N, Gotoh Y, Ikezumi Y, Kubota T, Kamei K, Fujita N, Ohtsuka Y, Okamoto T, Yamada T, Tanaka E, Shimizu M, Horinouchi T, Konishi A, Omori T, Nakanishi K, Ishikura K, Ito S, Nakamura H, Nozu K; Japanese Study Group of Kidney Disease in Children. J Am Soc Nephrol. 2022 Feb;33(2):401-419. doi: 10.1681/ASN.2021050643. Epub 2021 Dec 8.
Novel ARG1 variants identified in a patient with arginase 1 deficiency. Yokoi K, Nakajima Y, Yasui T, Yoshino M, Yoshikawa T, Kurahashi H, Ito T. Hum Genome Var. 2021 Feb 4;8(1):8. doi: 10.1038/s41439-021-00139-9.
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism. Tanaka T, Aoyama K, Suzuki A, Saitoh S, Mizuno H. J Pediatr Endocrinol Metab. 2020 May 29;33(6):691-701.
Steroid treatment promotes an M2 anti-inflammatory macrophage phenotype in childhood lupus nephritis. Ikezumi Y, Kondoh T, Matsumoto Y, Kumagai N, Kaneko M, Hasegawa H, Yamada T, Kaneko U, Nikolic-Paterson DJ. Pediatr Nephrol. 2021 Feb;36(2):349-359. doi: 10.1007/s00467-020-04734-w. Epub 2020 Sep 1.
Management of a Preterm Infant with Renal Tubular Dysgenesis: A Case Report and Review of the Literature. Kondoh T, Kawai Y, Matsumoto Y, Kumagai N, Miyata M, Tanaka K, Hibino S, Fujita N, Ikezumi Y. Tohoku J Exp Med. 2020 Sep;252(1):9-14.
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations. Ago Y, Otsuka H, Sasai H, Abdelkreem E, Nakama M, Aoyama Y, Matsumoto H, Fujiki R, Ohara O, Akiyama K, Fukui K, Watanabe Y, Nakajima Y, Ohnishi H, Ito T, Fukao T. Exp Ther Med. 2020 Nov;20(5):39.
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Kishita Y, Shimura M, Kohda M, Akita M, Imai-Okazaki A, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y. Mol Genet Genomic Med. 2020 Oct;8(10):e1427.
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia. Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Genet Med. 2020 Jul;22(7):1281.
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase. Ota S, Noguchi A, Kondo D, Nakajima Y, Ito T, Arai H, Takahashi T. Tohoku J Exp Med. 2020 Jan;250(1):5-11.
Impact of DPYD, DPYS and UPB1 Gene Variations on Severe Drug-Related Toxicity in Cancer Patients. Yokoi K, Nakajima Y, Matsuoka H, Shinkai Y, Ishihara T, Maeda Y, Kato T, Katsuno H, Masumori K, Kawada K, Yoshikawa T, Ito T, Kurahashi H. Cancer Sci. 2020 Jul 3.