Indian Journal of Medical Sciences Medknow Publications on behalf of Indian Journal of Medical Sciences Trust ISSN: 0019-5359 EISSN: 1998-3654 Vol. 61, Num. 5, 2007, pp. 286-288

Indian Journal of Medical Sciences, Vol. 61, No. 5, May, 2007, pp. 286-288

Letter To Editor

Equal outcome of living-related liver transplantation for Wilson's disease from heterozygote and nonheterozygote donors: A report of a brother and sister

El-Karaksy Hanaa, Nomachi Shosuke, Esmat Gamal, El-Serafy Magdy, Kamel RefaatRefaat, El-Ansary Adel, Refaat Samy, Tanaka Koishi

Correspondence Address:44 Mohei El-Deen Abu El-Ezz Street, Dokki, 12311, Cairo, hanaakaraksy@yahoo.com

Code Number: ms07044

Sir,

Liver transplantation is indicated for fulminant form and end-stage liver disease known as Wilson's disease (WD). ^[1] T.H., a 43-year-old Libyan male; and his sister N.H., a 35-year-old Libyan female, were diagnosed with WD in their early teens. They developed end-stage liver disease in the fifth and fourth decade of their life respectively and were referred to our hospital for living-related liver transplantation (LRLT). Both were neurologically free. WD was excluded in both donor brothers.

Both recipients were on replacement therapy for hypothyroidism. N.H. had amenorrhea of 2 years′ duration.

Genotyping was done by Soshuke Nomachi, Ph.D., Sapporo City Institute of Public Health. DNA was extracted from dried blood samples, after fixation with organic solvent, by boiling. The 21 exons of ATP7B gene were amplified by exon-specific polymerase chain reaction (PCR). This was followed by purification of PCR products. DNA analysis was carried out by cycle sequencing (Texas Red Labeling) and measured by auto sequencer: HITACHI SQ5500E. Lastly, obtained data were analyzed.

Both recipients were discharged from the hospital on days 34 and 27 respectively. Both donors had an uneventful postoperative course. Before discharge, both recipients had normal serum ceruloplasmin levels. Results of genotyping showed homozygosity for Wilson′s disease mutation: Ex 14 H1069Q (CAC His>CAA Gln) in the tested recipient, N.H. Her donor brother was nonheterozygote. A.H., the donor of T.H., was heterozygote for the same mutation [Figure - 1],[Figure - 2].

N.H. and T.H. and their donor brothers have been followed for 32 and 30 months respectively. N.H. started to have regular menses 1 year after LRLT. Neither of the recipients had disease recurrence.

During the period from August 2001 to August 2006, 124 cases underwent LRLT at our center; only 2 cases (1.6%) were transplanted for WD. This is comparable to other centers. ^[2]

In Egypt, cadaveric liver transplantation is not yet legitimized. With unavailability of cadaveric donors, LRLT has been indicated for WD. ^[3],[4]

Both recipients had hypothyroidism prior to transplantation. The female recipient had amenorrhea for 2 years. Clinical manifestations of WD may include Fanconi syndrome with aminoaciduria, nephrolithiasis, cardiac dysrhythmias, arthritis or arthralgias, rhabdomyolisis, hemolytic anemia, hypothyroidism, hypoparathyroidism and secondary amenorrhea. These features are often reversible with chelation therapy, confirming the etiology as copper accumulation rather than the underlying liver disease. ^[5] Our recipients were noncompliant with chelation therapy. One year after transplantation, our female recipient started to have menses. Both recipients could discontinue their thyroid replacement therapy. Endocrinal dysfunction from copper deposition or liver failure is reversible with liver transplantation.

Although WD was excluded in both donors, heterozygosity for WD can only be confirmed by mutation analysis. One of the donors proved to be heterozygote for the same mutation detected in his sister [Ex 14 H1069Q (CAC His>CAA Gln)], and the other donor was nonheterozygote. The follow-up of both donors and recipients did not show any difference in the outcome. Both living donors (heterozygote and nonheterozygote) recovered rapidly and uneventfully. Morioka et al. ^[6] reported that the use of heterozygous donors had no negative impact on either donor or recipient.

In conclusion, LRLT for hepatic WD from heterozygote donor has an outcome as good as that from nonheterozygote donor. Graft chosen from heterozygote carrier does not appear to confer risk of recurrence in the recipient, at least in the short term.

References

Copyright 2007 - Indian Journal of Medical Sciences

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