title: A case of Fabry nephropathy with histological features of oligonephropathy.
abstract: Newborn screening studies indicate the expected high incidence of later-onset Fabry disease with silent Fabry nephropathy while, with recent improved clinical care of premature infants, children with congenital oligonephropathy caused by premature embryonal development of the kidney are thought to be increasing. However, the coexistence of Fabry nephropathy and oligonephropathy has not been reported previously. We present the case of a 13-year-old boy who was diagnosed with Fabry nephropathy accompanied with histological features of oligonephropathy. He was born as a preterm baby, and a renal biopsy was performed because of mild renal dysfunction and mild proteinuria. He had neither characteristic early symptoms nor a family history of Fabry disease. Histologic findings demonstrated diffuse global enlargement and foamy change of podocytes with markedly decreased number and enlargement of the glomeruli. Both his plasma and leukocyte α-galactosidase A (GLA) activities were markedly decreased, and the plasma globotriaosylsphingosine and urine globotriaosylceramide levels were increased. Gene analysis revealed a missense mutation, R112H, in the GLA gene, which had been reported in the later-onset phenotype of Fabry patients. He is now under treatment with enzyme replacement therapy and an angiotensin-converting enzyme inhibitor.
  
  
  CONCLUSIONS
  This case indicated the possible co-occurrence of Fabry nephropathy and oligonephropathy. For early diagnosis and timely management, careful examinations for proteinuria and renal function, in addition to establishing an effective screening system for Fabry disease, will be necessary.
authors.affiliation: Department of Pediatric Cardiology and Nephrology, Kyoto Prefectural University of Medicine Graduate School of Medical Science, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan, mnishida@koto.kpu-m.ac.jp.
authors.forename: Masashi
authors.initials: M
authors.lastname: Nishida
authors.forename: Kitaro
authors.initials: K
authors.lastname: Kosaka
authors.forename: Koh
authors.initials: K
authors.lastname: Hasegawa
authors.forename: Kousuke
authors.initials: K
authors.lastname: Nishikawa
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Itoi
authors.forename: Takahiro
authors.initials: T
authors.lastname: Tsukimura
authors.forename: Tadayasu
authors.initials: T
authors.lastname: Togawa
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sakuraba
authors.forename: Kenji
authors.initials: K
authors.lastname: Hamaoka
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000201:enzymology / Q000473:pathology*; D006017:Glycolipids / Q000097:blood; D006801:Humans; D007674:Kidney Diseases / Q000201:enzymology / Q000473:pathology*; D007678:Kidney Glomerulus / Q000473:pathology*; D008297:Male; D020125:Mutation, Missense; D013107:Sphingolipids / Q000097:blood; D014281:Trihexosylceramides / Q000652:urine; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics
chemical_list: D006017:Glycolipids; D013107:Sphingolipids; D014281:Trihexosylceramides; C063288:globotriaosyl lysosphingolipid; C018549:globotriaosylceramide; D000519:alpha-Galactosidase
references.citation: Nephrol Dial Transplant. 2009 Jul;24(7):2102-11
references.pmid: 19218538
references.citation: Biochim Biophys Acta. 2010 Sep;1802(9):741-8
references.pmid: 20471476
references.citation: Clin J Am Soc Nephrol. 2010 Jan;5(1):39-44
references.pmid: 19965542
references.citation: Drugs. 2009 Nov 12;69(16):2179-205
references.pmid: 19852524
references.citation: Hum Mutat. 2009 Oct;30(10):1397-405
references.pmid: 19621417
references.citation: Kidney Int. 2003 Sep;64(3):801-7
references.pmid: 12911529
references.citation: Am J Hum Genet. 2006 Jul;79(1):31-40
references.pmid: 16773563
references.citation: Am J Perinatol. 2012 Feb;29(2):115-20
references.pmid: 22094915
references.citation: Clin J Am Soc Nephrol. 2009 Jan;4(1):71-6
references.pmid: 19019999
references.citation: Bull World Health Organ. 2010 Jan;88(1):31-8
references.pmid: 20428351
references.citation: Pediatr Nephrol. 2013 May;28(5):679-87
references.pmid: 22898981
references.citation: J Pathol. 1993 Oct;171(2):145-50
references.pmid: 8283351
references.citation: Clin J Am Soc Nephrol. 2010 Dec;5(12):2220-8
references.pmid: 20813854
references.citation: J Am Soc Nephrol. 2013 Jan;24(1):137-48
references.pmid: 23274955
references.citation: Mol Genet Metab. 2008 Feb;93(2):112-28
references.pmid: 18037317
references.citation: Arch Pediatr. 2009 Sep;16 Suppl 1:S42-8
references.pmid: 19836667
references.citation: J Hum Genet. 2013 Aug;58(8):548-52
references.pmid: 23677059