References
Savoia A, Pecci A (2008) [Updated 2015 Jul 16] MYH9-related disorders. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2017. Available at: https://www.ncbi.nlm.nih.gov/books/NBK2689/
Ai Q, Zhao L, Yin J, Jiang L, Jin Q, Hu X, Chen S (2020) A novel de novo MYH9 mutation in MYH9-related disease: a case report and review of literature. Medicine (Baltimore) 99:e18887
Althaus K, Greinacher A (2010) MYH-9 related platelet disorders: strategies for management and diagnosis. Transfus Med Hemotherapy 37:260–267
Yap DYH, Tse KC, Chan TM, Lie AKW (2009) Epstein syndrome presenting as Epstein syndrome presenting as renal failure in young patients. Ren Fail 31:582–585
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK (2020) Epstein syndrome. Saudi J Kidney Dis Transpl 31:865–867
Hu Y, Ma JY, Liu HQ, Yang BX, Zhao SS, Zhang JL, Wu RH (2021) Clinical and genetic features of seven children with MYH9-related disease. Zhonghua Er Ke Za Zhi 59:968–972
Luo XJ, Cao K, Liu J, Duan QY, Chen SY, Zhang Y, Huang T, Mao XN, Li CG, Chen YS (2021) Gene analysis and clinical features of MYH9-related disease. Zhonghua Er Ke Za Zhi 59:957–962
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A (2003) 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
Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI (2011) Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol 26:549–555
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H (2019) Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol 34:1175–1189
Bhatt A, Broxson E, Witte D, Omoloja A (2009) Thrombocytopenia and proteinuria. Nonmuscle myosin heavy-chain-9-related disease (MYH9 RD) or Epstein syndrome (ES). Pediatr Nephrol 24:485–488
Pecci A, Granata A, Fiore CE, Balduini CL (2008) Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant 23:2690–2692
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
Additional information
Publisher's note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
This refers to the article that can be found at https://doi.org/10.1007/s00467-022-05425-4
Rights and permissions
About this article
Cite this article
Sethi, S.K., Goel, S., Vadhera, A. et al. Familial kidney failure with macro-thrombocytopenia: Answers. Pediatr Nephrol 37, 1801–1803 (2022). https://doi.org/10.1007/s00467-022-05459-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00467-022-05459-8