書籍詳細

目次

P.9 掲載の参考文献

• 1) Nozu K, et al : A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol 23 : 158-168, 2019.
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• 2) Kashtan CE, et al : Alport syndrome : a unified classification of genetic disorders of collagen IV α345 : a position paper of the Alport Syndrome Classification Working Group. Kidney Int 93 : 1045-1051, 2018.

• 3) アルポート症候群診療ガイドライン 2017 (日本小児腎臓病学会編), 診断と治療社, 2017.

• 4) Nakanishi K, et al : Immunohistochemical study of α1-5 chains of type IV collagen in hereditary nephritis. Kidney Int 46 : 1413-1421, 1994.

• 5) Hashimura Y, et al : Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. Kidney Int 85 : 1208-1213, 2014.

• 6) Yamamura T, et al : Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney Int 98 : 1605-1614, 2020.
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• 7) Yamamura T, et al : Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome. Kidney Int Rep 2 : 850-855, 2017.
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• 8) Oka M, et al : Natural history of genetically proven autosomal recessive Alport syndrome. Pediatr Nephrol 29 : 1535-1544, 2014.
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• 9) Kamiyoshi N, et al : Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. Clin J Am Soc Nephrol 11 : 1441-1449, 2016.
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P.14 掲載の参考文献

• 1) Epstein CJ, et al : Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 52 : 299-310, 1972.
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• 2) Peterson LC, et al : Fechtner syndrome-a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65 : 397-406, 1985.
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• 3) May R : Leukozyteneinschlusse. Dtsch Arch Klin Med 96 : 1-6, 1909.

• 4) Hegglin R : Simultaneous Constitutional Changes In Neutrophils and Platelets. Helv Med Acta 12 : 439, 1945.
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• 5) Greinacher A, et al : Sebastian platelet syndrome : a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 61 : 282-288, 1990.
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• 6) Kelley MJ, et al : Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26 : 106-108, 2000.
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• 7) Seri M, et al : Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet 26 : 103-105, 2000.
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• 8) Kunishima S, et al : Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 97 : 1147-1149, 2001.
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• 9) Heath KE, et al : Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias : May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 69 : 1033-1045, 2001.
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• 10) Kunishima S, et al : Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 46 : 722-729, 2001.
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• 11) Seri M, et al : MYH9-related disease : May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 82 : 203-215, 2003.

• 12) 國島伸治 : Epstein症候群. 別冊日本臨牀新領域別症候群シリーズ No.22 血液症候群 (第2版) II, p372-374, 2013.

• 13) Savoia A, et al : Heavy chain myosin 9-related disease (MYH9-RD) : neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 103 : 826-832, 2010.
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• 14) Pecci A, et al : MYH9 : Structure, functions and role of non-muscle myosin IIA in human disease. Gene 664 : 152-167, 2018.
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• 15) Savoia A, Pecci A : MYH9-related disease. In : GeneReviews(R) [Internet] (ed by Adam MP, et al), Seattle (WA) : University of Washington, Seattle ; 1993-2022, 2008 (updated 2021).

• 16) Noris P, et al : Platelet diameters in inherited thrombocytopenias : analysis of 376 patients with all known disorders. Blood 124 : e4-e10, 2014.
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• 17) Kunishima S, et al : Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol 78 : 220-226, 2007.
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• 18) Sekine T, et al : Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 78 : 207-214, 2010.
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• 19) Pecci A, et al : MYH9-related disease : a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 35 : 236-247, 2014.
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• 20) Miura K, et al : Podocyte expression of nonmuscle myosin heavy chain-IIA decreases in idiopathic nephrotic syndrome, especially in focal segmental glomerulosclerosis. Nephrol Dial Transplant 28 : 2993-3003, 2013.
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• 21) Johnstone DB, et al : Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. Mol Cell Biol 31 : 2162-2170, 2011.
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• 22) Suzuki N, et al : Establishment of mouse model of MYH9 disorders : heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. PLoS One 8 : e71187, 2013.
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• 23) Verver EJ, et al : Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. Ear Hear 37 : 112-120, 2016.
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• 24) 難病情報センター : エプスタイン症候群 (指定難病287). [www.nanbyou.or.jp/entry/4652]

• 25) Hashimoto J, et al : Successful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies : A Case Report. Transplant Proc 47 : 2541-2543, 2015.
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• 26) Pecci A, et al : Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 116 : 5832-5837, 2010.
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• 27) Zaninetti C, et al : Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia. Am J Hematol 94 : E199-E201, 2019.
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P.20 掲載の参考文献

• 1) Moake JL : Thrombotic thrombocytopenic purpura : the systemic clumping "plague". Annu Rev Med 53 : 75-88, 2002.
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• 2) 松本雅則, ほか : 血栓性血小板減少性紫斑病 (TTP) 診療ガイド 2017. 臨床血液 58 : 271-281, 2017.

• 3) Kokame K, et al : Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome. J Thromb Haemost 9 : 1654-1656, 2011.
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• 4) Joly BS, et al : Thrombotic thrombocytopenic purpura. Blood 129 : 2836-2846, 2017.
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• 5) Levy GG, et al : Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413 : 488-494, 2001.

• 6) Kasper CK, Pool JG : Letter : Measurement of mild factor VIII inhibitors in Bethesda units. Thromb Diath Haemorrh 34 : 875-876, 1975.
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• 7) Kokame K, et al : Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci U S A 99 : 11902-11907, 2002.
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• 8) Kremer Hovinga JA, George JN : Hereditary Thrombotic Thrombocytopenic Purpura. N Engl J Med 381 : 1653-1662, 2019.
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• 9) Zheng XL, et al : ISTH guidelines for treatment of thrombotic thrombocytopenic purpura. J Thromb Haemost 18 : 2496-2502, 2020.
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• 10) Scully M, et al : Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies. Br J Haematol 158 : 323-335, 2012.
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• 11) Sakai K, et al : Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura. J Thromb Haemost 18 : 2929-2941, 2020.
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• 12) Yoshida Y, et al : Severe reduction of free-form ADAMTS13, unbound to von Willebrand factor, in plasma of patients with HELLP syndrome. Blood Adv 1 : 1628-1631, 2017.

• 13) Pequeriaux NC, et al : Plasma concentration of von Willebrand factor predicts mortality in patients on chronic renal replacement therapy. Nephrol Dial Transplant 27 : 2452-2457, 2012.
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• 14) Ocak G, et al : Von Willebrand factor, ADAMTS13 and mortality in dialysis patients. BMC Nephrol 22 : 222, 2021.
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• 15) Itami H, et al : Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome. Thromb Res 170 : 148-155, 2018.

P.25 掲載の参考文献

• 1) Russell OM, et al : Mitochondrial Diseases : Hope for the Future. Cell 181 : 168-188, 2020.
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• 2) Koopman WJ, et al : Monogenic mitochondrial disorders. N Engl J Med 366 : 1132-1141, 2012.
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• 3) ミトコンドリア病診療マニュアル作成委員会 : ミトコンドリア病診療マニュアル 2017 (日本ミトコンドリア学会編), 診断と治療社, 2016.

• 4) Imasawa T, et al : Clinicopathologic Features of Mitochondrial Nephropathy. Kidney Int Rep 7 : 580-590, 2022.
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• 5) Ibayashi K, et al : Estimation of the number of patients with mitochondrial diseases : A descriptive study using a nationwide database in Japan. J Epidemiol, 2021. (DOI : 10.2188/jea.JE20200577)

• 6) Massin P, et al : Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study. Diabetologia 51 : 1664-1670, 2008.
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• 7) Hall AM, et al : The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney Int 87 : 610-622, 2015.
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• 8) Imasawa T, Rossignol R : Podocyte energy metabolism and glomerular diseases. Int J Biochem Cell Biol 45 : 2109-2118, 2013.
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• 9) Imasawa T, Murayama K : Response to "The Spectrum of Renal Abnormalities in Mitochondrial Disorders is Broad". Kidney Int Rep, 2022. (DOI : 10.1016/j.ekir.2022.05.015)

• 10) Mochizuki H, et al : Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol 46 : 347-352, 1996.
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• 11) Kobayashi A, et al : Granular swollen epithelial cells : a histologic and diagnostic marker for mitochondrial nephropathy. Am J Surg Pathol 34 : 262-270, 2010.
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• 12) Maeoka Y, et al : A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes. BMC Nephrol 21 : 376, 2020.
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• 13) Santos R, et al : Iatrogenic arteriovenous fistula with right-sided heart failure. Eur Heart J Case Rep 5 : ytab021, 2021.
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• 14) Ohsawa Y, et al : Taurine supplementation for prevention of stroke-like episodes in MELAS : a multicentre, open-label, 52-week phase III trial. J Neurol Neurosurg Psychiatry 90 : 529-536, 2019.

• 15) Korkmaz E, et al : ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. J Am Soc Nephrol 27 : 63-68, 2016.
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P.29 掲載の参考文献

• 1) Saito T, et al : Lipoprotein glomerulopathy : glomerular lipoprotein thrombi in a patient with hyperlipoproteinemia. Am J Kidney Dis 13 : 148-153, 1989.

• 2) Oikawa S, et al : Apolipoprotein E Sendai (arginine 145 → proline) : a new variant associated with lipoprotein glomerulopathy. J Am Soc Nephrol 8 : 820-823, 1997.

• 3) 斉藤喬雄 : リポ蛋白糸球体症. 腎臓内科・泌尿器科 4 : 570-577, 2016.

• 4) Li M et al : An updated review and meta analysis of lipoprotein glomerulopathy. Front Med (Lausanne) 9 : 905007, 2022.
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• 5) Song Y, et al : Case Report : A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review. Front Pediatr 9 : 684814, 2021.
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• 6) Hu Z, et al : Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. Kidney Int 85 : 416-424, 2014.
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• 7) Toyota K, et al : A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy. J Hum Genet 58 : 254-258, 2013.
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• 8) Mochizuki S, et al : Significance of fat stains in serial sections from Epon-embedded tissue samples for electron microscopy in renal diseases. Clin Exp Nephrol 5 : 240-245, 2001.

• 9) Saito T, et al : Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. Am J Kidney Dis 47 : 199-211, 2006.

• 10) Saito T, et al : Apolipoprotein E-related glomerular disorders. Kidney Int 97 : 279-288, 2020.
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• 11) 斉藤喬雄, ほか : アポ蛋白E関連糸球体疾患. 腎臓内科 12 : 481-489, 2020.

• 12) Kanamaru Y, et al : Chronic graft-versus-host autoimmune disease in Fc receptor gamma chaindeficient mice results in lipoprotein glomerulopathy. J Am Soc Nephrol 13 : 1527-1533, 2002.
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• 13) Ito K, et al : Macrophage impairment produced by Fc receptor gamma deficiency plays a principal role in the development of lipoprotein glomerulopathy in concert with apoE abnormalities. Nephrol Dial Transplant 27 : 3899-3907, 2012.

• 14) Russi G, et al : Lipoprotein glomerulopathy treated with LDL-apheresis (Heparin-induced Extracorporeal Lipoprotein Precipitation system) : a case report. J Med Case Rep 3 : 9311, 2009.
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• 15) Xin Z, et al : Successful treatment of patients with lipoprotein glomerulopathy by protein A immunoadsorption : a pilot study. Nephrol Dial Transplant 24 : 864-869, 2009.
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P.35 掲載の参考文献

• 1) Calabresi L, et al : Genetic lecithin : cholesterol acyltransferase deficiency and cardiovascular disease. Atherosclerosis 222 : 229-306, 2011.

• 2) Kuroda M, et al : Current Status of Familial LCAT Deficiency in Japan. J Atheroscler Thromb 28 : 679-691, 2021.
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• 3) Teisberg P, et al : Genetics of LCAT (lecithin : cholesterol acyltransferase) deficiency. Ann Hum Genet 38 : 327-331, 1975.
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• 4) Vitali C, et al : A systematic review of the natural history and biomarkers of primary lecithin : cholesterol acyltransferase deficiency. J Lipid Res 63 : 100169, 2022.
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• 5) Naito S, et al : Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment. Atherosclerosis 228 : 193-197, 2013.

• 6) Holleboom AG, et al : Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin : cholesterol acyl transferase. Atherosclerosis 216 : 161-165, 2011.
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• 7) Yee MS, et al : Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy. Atherosclerosis 205 : 528-532, 2009.
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• 8) Aranda P, et al : Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs). Clin Nephrol 69 : 213-218, 2008.
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• 9) Miarka P, et al : Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency. Clin Exp Nephrol 15 : 424-429, 2011.

• 10) Shamburek RD, et al : Familial lecithin : cholesterol acyltransferase deficiency : First-in-human treatment with enzyme replacement. J Clin Lipidol 10 : 356-367, 2016.
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• 11) Kuroda M, et al : A Novel Approach to the Treatment of Plasma Protein Deficiency : Ex Vivo-Manipulated Adipocytes for Sustained Secretion of Therapeutic Proteins. Chem Pharm Bull (Tokyo) 66 : 217-224, 2018.

• 12) Ahmad SB, et al : Sequential kidney-liver transplantation from the same living donor for lecithin cholesterol acyl transferase deficiency. Clin Transplant 30 : 1370-1374, 2016.
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P.40 掲載の参考文献

• 1) Jalanko H, Holmberg C : Congenital nephrotic syndrome. In : Pediatric Nephrology, 7th ed, (ed by Avner ED, et al), p753-776, Springer, Heidelberg, 2016.

• 2) Kestila M, et al : Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1 : 575-582, 1998.
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• 3) Patrakka J, et al : Congenital nephrotic syndrome (NPHS1) : features resulting from different mutations in Finnish patients. Kidney Int 58 : 972-980, 2000.
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• 4) Machuca E, et al : Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 21 : 1209-1217, 2010.
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• 5) Nagano C, et al : Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 10 : 270, 2020.
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• 6) Holmberg C, et al : Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9 : 87-93, 1995.
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• 7) Holtta T, et al : Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1 : data from the ESPN/ERA-EDTA Registry. Pediatr Nephrol 31 : 2317-2325, 2016.

• 8) Kim MS, et al : Renal transplantation in children with congenital nephrotic syndrome : a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). Pediatr Transplant 2 : 305-308, 1998.
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• 9) Patrakka J, et al : Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type : role of nephrin. Tranplantation 73 : 394-403, 2002.

• 10) Dufek S, et al : Management of children with congenital nephrotic syndrome : challenging treatment paradigms. Nephrol Dial Transplant 34 : 1369-1377, 2019.
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• 11) 長澤武, ほか : 片側固有腎摘出と腹膜透析を経て腎移植を行ったフィンランド型先天性ネフローゼ症候群. 日本小児科学会雑誌 125 : 42-47, 2021.

P.45 掲載の参考文献

• 1) Dreyer SD, et al : Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19 : 47-50, 1998.

• 2) Ghoumid J, et al : Nail-Patella Syndrome : clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet 24 : 44-50, 2016.
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• 3) Harita Y, et al : Spectrum of LMX1B mutations : from nail-patella syndrome to isolated nephropathy. Pediatr Nephrol 32 : 1845-1850, 2017.
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• 4) Isojima T, et al : LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Nephrol Dial Transplant 29 : 81-88, 2014.
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• 5) Bongers EM, et al : Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 13 : 935-946, 2005.
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• 6) Harita Y, et al : Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. Eur J Hum Genet 28 : 1414-1421, 2020.
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• 7) Morello R, Lee B : Insight into podocyte differentiation from the study of human genetic disease : nail-patella syndrome and transcriptional regulation in podocytes. Pediatr Res 51 : 551-558, 2002.

• 8) Chen H, et al : Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 19 : 51-55, 1998.

• 9) Morello R, et al : Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 27 : 205-208, 2001.
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• 10) Miner JH, et al : Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 109 : 1065-1072, 2002.
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• 11) He B, et al : Lmx1b and FoxC combinatorially regulate podocin expression in podocytes. J Am Soc Nephrol 25 : 2764-2777, 2014.
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• 12) Suleiman H, et al : The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes. Dev Biol 304 : 701-712, 2007.
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• 13) Heidet L, et al : In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol 163 : 145-155, 2003.
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• 14) Konomoto T, et al : Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology (Carlton) 21 : 765-773, 2016.
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• 15) Nakata T, et al : Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome : a case of a de novo LMX1B mutation. BMC Nephrol 18 : 100, 2017.

• 16) Bongers EM, et al : Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 17 : 703-712, 2002.
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• 17) Lei L, et al : Myelin bodies in LMX1B-associated nephropathy : potential for misdiagnosis. Pediatr Nephrol 35 : 1647-1657, 2020.
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• 18) Pinto E Vairo F, et al : Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy : a case report. BMC Nephrol 21 : 341, 2020.
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• 19) Shimohata H, et al : LMX1B-associated nephropathy that showed myelin figures on electron microscopy. CEN Case Rep 10 : 588-591, 2021.
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• 20) Bongers EM, et al : Identification of entire LMX1B gene deletions in nail patella syndrome : evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 16 : 1240-1244, 2008.
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• 21) Haro E, et al : Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity. Nat Commun 12 : 5533, 2021.
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• 22) Lemley KV : Kidney disease in nail-patella syndrome. Pediatr Nephrol 24 : 2345-2354, 2009.
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P.50 掲載の参考文献

• 1) Nonaka M, Kimura A : Genomic view of the evolution of the complement system. Immunogenetics 58 : 701-713, 2006.
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• 2) Gunn WC : The variation in the amount of complement in the blood in some acute infectious diseases and its relation to the clinical features. J Pathol Bacteriol 19 : 155-181, 1915.

• 3) Spitzer RE, et al : Serum C'3 lytic system in patients with glomerulonephritis. Science 164 : 436-437, 1969.

• 4) Matsuo S, et al : Complement mediated renal injury : mechanisms and role of membrane regulators of complement. Clin Exp Nephrol 2 : 276-281, 1998.

• 5) Nangaku M : Complement regulatory proteins in glomerular diseases. Kidney Int 54 : 1419-1428, 1998.
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• 6) Mizuno M, Morgan BP : The possibilities and pitfalls for anti-complement therapies in inflammatory diseases. Curr Drug Targets Inflamm Allergy 3 : 87-96, 2004.
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• 7) Wada T, Nangaku M : Novel roles of complement in renal diseases and their therapeutic consequences. Kidney Int 84 : 441-450, 2013.
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• 8) 澤井俊宏, ほか : エクリズマブによるaHUS治療. 日本腎臓学会誌 56 : 1090-1096, 2014.

• 9) Kato H, et al : Safety and effectiveness of eculizumab for adult patients with atypical hemolyticuremic syndrome in Japan : interim analysis of post-marketing surveillance. Clin Exp Nephrol 23 : 65-75, 2019.

• 10) Ito S, et al : Safety and effectiveness of eculizumab for pediatric patients with atypical hemolyticuremic syndrome in Japan : interim analysis of post-marketing surveillance. Clin Exp Nephrol 23 : 112-121, 2019.

• 11) Harris CL, et al : Developments in anti-complement therapy ; from disease to clinical trial. Mol Immunol 102 : 89-119, 2018.
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• 14) Zipfel PF, et al : CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Am Soc Nephrol 31 : 241-256, 2020.
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• 15) Pickering MC, et al : Uncontrolled C3 activation causes membranoproliferative glomeruloneph-ritis in mice deficient in complement factor H. Nat Genet 31 : 424-428, 2002.

• 16) Williams AL, et al : C5 inhibition prevents renal failure in a mouse model of lethal C3 glomerulopathy. Kidney Int 91 : 1386-1397, 2017.

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• 18) Osborne AJ, et al : Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Immunol 200 : 2464-2478, 2018.
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P.55 掲載の参考文献

• 1) 中西浩一, 吉川徳茂 : Alport症候群. 日本腎臓学会誌 57 : 736-742, 2015.

• 2) Tryggvason K, Patrakka J : Thin basement membrane nephropathy. J Am Soc Nephrol 17 : 813-822, 2006.
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• 3) Savige J, et al : Thin basement membrane nephropathy. Kidney Int 64 : 1169-1178, 2003.
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• 4) Buzza M, et al : Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int 59 : 1670-1676, 2001.
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• 5) Collar JE, et al : Red cell traverse through thin glomerular basement membranes. Kidney Int 59 : 2069-2072, 2001.
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No. 22 腎臓症候群 ( 第3版 ) I 内容項目一覧

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