The importance of medical interview with CKD patient in diagnoses of a family with Fabry disease

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• 作者：Yuichi Sakamaki (1) (2)
  Hiroki Maruyama (3)
  Noriyuki Homma (1)
  Gen Nakamura (1)
  Eiichi Ito (1)
  Kunihiko Makino (1)
  Kazuhiro Yoshita (2)
  Yumi Ito (2)
  Yutaka Osawa (2)
  Naofumi Imai (2)
  Mitsuhiro Ueno (4)
  Shigeru Miyazaki (5)
  Ichiei Narita (2)
  
• 关键词：Fabry disease ; Familial study ; Genetic counseling ; Enzyme replacement therapy
• 刊名：CEN Case Reports
• 出版年：2014
• 出版时间：November 2014
• 年：2014
• 卷：3
• 期：2
• 页码：152-157
• 全文大小：706 KB
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  9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249-4. CrossRef
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  11. Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, Araki E, Itoh K, Matsushita K, Hara M, Kuwahara K, Nakano T, Yasumoto N, Nonoguchi H, Tomita K. Identification of Fabry’s disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol. 2005;64:281-. CrossRef
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• 作者单位：Yuichi Sakamaki (1) (2)
  Hiroki Maruyama (3)
  Noriyuki Homma (1)
  Gen Nakamura (1)
  Eiichi Ito (1)
  Kunihiko Makino (1)
  Kazuhiro Yoshita (2)
  Yumi Ito (2)
  Yutaka Osawa (2)
  Naofumi Imai (2)
  Mitsuhiro Ueno (4)
  Shigeru Miyazaki (5)
  Ichiei Narita (2)
  
  1. Department of Internal Medicine, Niigata Prefectural Shibata Hospital, Shibata, Niigata, Japan
  2. Division of Clinical Nephrology and Rheumatology, Graduate School of Medical and Dental Sciences, Niigata University, 1-757 Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-8510, Japan
  3. Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
  4. University Health Center, Joetsu University of Education, Joetsu, Niigata, Japan
  5. Division of Nephrology and Hypertension, Department of Internal Medicine, Shinrakuen Hospital, Niigata, Japan
  
• ISSN：2192-4449

文摘

A 47-year-old Japanese man was admitted to our hospital for evaluation of proteinuria, which was detected when he was 37?years of age. His creatinine clearance levels had fallen to 76.3?mL/min/1.73?m2. A kidney biopsy was conducted, and the patient’s low plasma α-galactosidase A levels suggested Fabry disease. After genetic counseling, GLA analysis revealed a novel mutation p.L387P. Interview with the patient revealed that both his younger brother and mother suffered from cardiomyopathy and were undergoing cardiological treatment. They also were positive for proteinuria. About 30?years ago, the patient’s cousin (aged 25) was diagnosed with Fabry disease. He underwent hemodialysis for 9?years until his death at 42. At that time, the patient and his brother had not been investigated for Fabry disease so their cousin could not act as a proband for the brothers. Eventually, the patient, his mother, and his brother were put on enzyme replacement therapy with agalsidase beta. As this series of cases shows, medical interviews to collate both medical and family history were essential for the discovery of Fabry disease in these patients. In addition, being a treatable genetic disorder, Fabry disease should be listed in the standard differential diagnoses of systemic and familial diseases, including unknown cause of nephropathy or cardiomyopathy, for early detection of the disorder.