Literature DB >> 29488049

Mulberries in the urine: a tell-tale sign of Fabry disease.

Pin Fee Chong1, Kimitoshi Nakamura2, Ryutaro Kira3.   

Abstract

Fabry disease is a treatable progressive illness of inborn error causing eventual multiple organ dysfunction in advanced untreated cases. We report on a classic Fabry child patient presenting with urinary mulberry cells and bodies without renal involvement. This report emphasizes the usefulness of urinary microscopic findings in the early diagnosis of Fabry disease.

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Year:  2018        PMID: 29488049     DOI: 10.1007/s10545-018-0155-6

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  3 in total

Review 1.  Lipiduria--with special relevance to Fabry disease.

Authors:  Gavin J Becker; Kathleen Nicholls
Journal:  Clin Chem Lab Med       Date:  2015-11       Impact factor: 3.694

2.  Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

Authors:  Robert Dobrovolny; Lenka Dvorakova; Jana Ledvinova; Sudheera Magage; Jan Bultas; Jean C Lubanda; Milan Elleder; Debora Karetova; Marketa Pavlikova; Martin Hrebicek
Journal:  J Mol Med (Berl)       Date:  2005-04-02       Impact factor: 4.599

3.  Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique.

Authors:  Mathu Selvarajah; Kathy Nicholls; Tim D Hewitson; Gavin J Becker
Journal:  Nephrol Dial Transplant       Date:  2011-03-07       Impact factor: 5.992

  3 in total
  1 in total

1.  Urinary Mulberry Cells as a Biomarker of the Efficacy of Enzyme Replacement Therapy for Fabry Disease.

Authors:  Yumi Aoyama; Yusuke Ushio; Takashi Yokoyama; Sekiko Taneda; Shiho Makabe; Miki Nishida; Shun Manabe; Masayo Sato; Hiroshi Kataoka; Ken Tsuchiya; Kosaku Nitta; Toshio Mochizuki
Journal:  Intern Med       Date:  2020-04-01       Impact factor: 1.271

  1 in total

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