0

The full content of Annals is available to subscribers

Subscribe/Learn More  >
Articles |

Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney Transplantation

MICHEL PHILIPPART, M.D.; STANLEY S. FRANKLIN, M.D.; and ARTHUR GORDON, M.D.
[+] Article and Author Information

Supported in part by the State of California Department of Mental Hygiene and by Research Grants HD-0412, HD-00345, HD-05615, and MCH 927, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md.

▸Requests for reprints should be addressed to Dr. Michel Philippart, UCLA Department of Psychiatry, Neuropsychiatric Institute, 760 Westwood Plaza, Los Angeles, Calif. 90024.


Los Angeles, California


Ann Intern Med. 1972;77(2):195-200. doi:10.7326/0003-4819-77-2-195
Text Size: A A A

A 38-year-old man with Fabry's disease (α-galactosidosis) received a cadaver kidney transplant in September 1969. After surgery, plasma and urine trihexosyl ceramide was successfully maintained within normal levels. Normal or higher than normal amounts of the deficient enzyme, α-galactosidase, were excreted in the urine. Plasma α-galactosidase activity, which was undetectable before transplantation, has fluctuated from 5% to 20% of the normal activity. Clinical improvement included decreased fatigability, complete disappearance of previous crippling bouts of pain, and sweating in this patient who had been anhidrotic in the past. Organ transplantation may thus provide an effective method of enzyme substitution. This type of therapy may be applicable to other selected types of inherited metabolic disorders.

Figures

Tables

References

Letters

NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Comments

Submit a Comment
Submit a Comment

Summary for Patients

Clinical Slide Sets

Terms of Use

The In the Clinic® slide sets are owned and copyrighted by the American College of Physicians (ACP). All text, graphics, trademarks, and other intellectual property incorporated into the slide sets remain the sole and exclusive property of the ACP. The slide sets may be used only by the person who downloads or purchases them and only for the purpose of presenting them during not-for-profit educational activities. Users may incorporate the entire slide set or selected individual slides into their own teaching presentations but may not alter the content of the slides in any way or remove the ACP copyright notice. Users may make print copies for use as hand-outs for the audience the user is personally addressing but may not otherwise reproduce or distribute the slides by any means or media, including but not limited to sending them as e-mail attachments, posting them on Internet or Intranet sites, publishing them in meeting proceedings, or making them available for sale or distribution in any unauthorized form, without the express written permission of the ACP. Unauthorized use of the In the Clinic slide sets will constitute copyright infringement.

Toolkit

Buy Now

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Advertisement
Related Articles
Journal Club
Related Point of Care
Topic Collections
PubMed Articles
Clinical problem-solving. In the thick of it. N Engl J Med 2013;368(18):1732-8.
Successful desensitization to agalsidase beta after anaphylaxis. Ann Allergy Asthma Immunol 2014;112(1):71-2.

Buy Now

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Forgot your password?
Enter your username and email address. We'll send you a reminder to the email address on record.
(Required)
(Required)