診断の手引き

  1. 慢性腎疾患
  2. 大分類: ネフローゼ症候群
6

ギャロウェイ・モワト(Galloway-Mowat)症候群

ぎゃろうぇい・もわとしょうこうぐん

Galloway-Mowat syndrome

告示

番号:22

疾病名:ギャロウェイ・モワト症候群

診断基準

ギャロウェイ・モワト症候群の診断基準を
  1. 小頭症(頭囲が性別・年齢平均値に比し、-2SDより小さい)
  2. 治療抵抗性か治療抵抗性と考えられる高度蛋白尿(尿蛋白/クレアチニン比 ≧ 1.0g/gCr、または一日尿蛋白量 ≧ 1g)
  3. 耳介など顔貌の形態異常
の 3症状がそろう場合を確実例(define)とする。
小頭症がなくても、中枢神経症状(難治性てんかん 知的発達症)があって、上記 2. に加えて、外表奇形や筋症状がある場合には、疑い例(probable)とする。

参考文献

  1. Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet 1968; 5: 319-21.
  2. Robain O, Deonna T. Pachygyria and congenital nephrosis disorder of migration and neuronal orientation. Acta Neuropathol (Berl) 1983; 60: 137-41.
  3. Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferré M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C. Loss-of function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.Am J Hum Genet. 2014; 95: 637-48.
  4. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015; 138: 2173–2190.
  5. Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A. 2016; 170: 992-8.
  6. El Younsi M, Kraoua L, Meddeb R, Ferjani M, Trabelsi M, Ouertani I, Maazoul F, Abid N, Gargah T, M'rad R. WDR73-related galloway mowat syndrome with collapsing glemerulopathy. Eur J Med Genet. 2019; 62: 103550.
  7. Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018; 176: 2460-2465.
  8. Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017; 54: 399-403.
  9. Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018; 84: 814-828.
  10. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017: 49; 1529-1538.
  11. Lin PY, Tseng MH, Zenker M, Rao J, Hildebrandt F, Lin SH, Lin CC, Chang JH, Hsu CH, Lee MD, Lin SP, Tsai JD. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Orphanet J Rare Dis. 2018; 13: 226.
  12. Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E. BMC Nephrol. Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. 2019; 20: 126.

対象の基準(疾病の状態の程度)

次のいずれかに該当する場合

蛋白尿がみられる場合、腎機能低下がみられる場合又は腎移植を行った場合
運動障害、知的障害、意識障害、自閉傾向、行動障害(自傷行為又は多動)、けいれん発作、皮膚所見(疾病に特徴的で、治療を要するものをいう。)、呼吸異常、体温調節異常、温痛覚低下、骨折又は脱臼のうち一つ以上の症状が続く場合
:第1版
更新日
:2021年11月1日
文責
:日本小児腎臓病学会

成長ホルモン療法の助成に関して

腎機能障害が進行し、身長が-2.5SD以下の場合でがつ成長ホルモン治療の対象基準を満たす場合は、小慢に よる成長ホルモン治療助成の対象となります。
成長ホルモン療法の助成に関しては下記を参照ください