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aurence-Moon–Bardet-Biedl Syndrome for Kidney Transplantationt the Age of 57 Years

.M. Langer, K. Földes, L. Szalay, and J. Járay

ABSTRACT

Laurence-Moon-Bardet-Biedl syndrome represents a very rare indication for kidneytransplantation. Previous reports mention only pediatric organ recipients with thisdiagnosis. We present the case of a Caucasian male patient who underwent a cadavericrenal transplantation at the age of 57 years. Our patient had an uneventful immediatepostoperative course; however, 4 months after the operation he suffered pneumonia andcytomegalovirus infection. He recovered fully and had an episode of acute cholecystitis. Atthe time of the laparoscopic cholecystectomy we also laparoscopically removed hisTenckhoff catheter, a procedure he could not undergo for more than a year because of achronic scabies infection. Now, 18 months after his transplantation he is fully rehabilitatedwith a serum creatinine of 90 �mol/L. In selected cases even in older age kidney transplan-

tation could offer a higher quality of life for this mentally retarded, blind population.

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AURENCE-MOON SYNDROME was originally de-scribed featuring mental retardation, hypogenitalism,

pinocerebellar ataxia, and nystagmus plus spastic paraple-ia. Independently Bardet and Biedl described a syndromeith mental retardation, hypogenitalism, obesity, polydac-

yly, and retinitis pigmentosa. Believing that those picturesepresent the same condition it gradually became knowns Laurence-Moon-Biedl syndrome.1 Later a sixth cardi-al feature was assigned to the syndrome: renal failure.2

espite the remarkable developments in the human ge-ome, the genetic background of that autosomal-recessiveisease is not yet clear.3 There are six genes identified as theBS family and two more loci mapped; however, with theireterogenous variations it is hard to bind them to theifferent phenotypes. A long-term (22-year) follow-up andenetic screening of these patients concluded that be-ause of the lack of the genotype-phenotype correlation,aurence-Moon and Bardet-Biedl syndromes are dis-

inct.4 We hope to understand the pathogenesis of theisease by clarifying the role of the BBS proteins.

ASE REPORT

57-year-old Caucasian male patient presented to our Kidneyransplant Unit with Laurence-Moon-Bardet-Biedl syndrome. Theatient was born with polydactyly, which was corrected by surgeryt the age of 1 year. He also underwent a tonsillectomy and sufferedfacial paresis because of an ipsilateral ear operation at the age of

4. He became legally blind as a result of his retinitis pigmentosa;

e also underwent a glaucoma operation at the age of 43. His r

2005 by Elsevier Inc. All rights reserved.60 Park Avenue South, New York, NY 10010-1710

ransplantation Proceedings, 37, 4223–4224 (2005)

idney function required peritoneal dialysis 3 years prior hisransplantation. He presented all six features of the Bardet-Biedlyndrome, with mental retardation, hypogonadism, and obesity too.is nephrologists thought that his quality of life could be improvedith a successful transplant, because he was living with his agedarents and future hemodialysis would have been the worst option

n his case. He never failed any appointment and as an inpatient heas always compliant.The patient underwent a cadaveric kidney transplant on October

5, 2003. He was matched in one HLA-A, one HLA-B, and twoLA-DR antigens; the donor kidney was cytomegalovirus (CMV)

ositive, the recipient CMV negative; he received gancyclovirrofilaxis for 3 months; his immunosuppression was a prednisone-yclosporine-mycophenolate mofetil combination. He immediatelyegan to decrease his serum creatinine and was released from theospital with a serum creatinine value of 135 �mol/L.Four months after his successful transplant he was admitted to

he hospital with mildly elevated temperatures, cough, and dys-noea. Chest X-ray showed a bilateral pneumonia; the immuno-uppression was decreased and the patient was admitted to thentensive care unit. With intensive breathing therapy and antibiotic-ntifungal combination he could avoid intubation and recover fromhe pneumonia. He developed a fever a few days later, and a CMVnfection was detected, which was cured with intravenous gancy-

From the Department of Transplantation and Surgery, Sem-elweis University, Budapest, Hungary.Address reprint requests to Robert M. Langer, MD, PhD,

epartment of Transplantation and Surgery, Semmelweis Uni-ersity, Baross u. 23., Budapest H-1082, Hungary. E-mail:

oblanger@hotmail.com

0041-1345/05/$–see front matterdoi:10.1016/j.transproceed.2005.10.024

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4224 LANGER, FÖLDES, SZALAY ET AL

lovir. His renal function remained well preserved with a serumreatinine around 100 �mol/L. Six weeks later he was diagnosedith scabies, which remained a constant problem for another yeary reinfecting himself and his family members several time, so thelanned removal of his Tenckhoff catheter was postponed indefi-itely. In March 2005 he suffered an attack of acute cholecystitis;ecause of the high enzymes we preferred to wait and he wascheduled for an elective laparoscopic operation 6 weeks later. Anneventful laparoscopic cholecystectomy was performed with aimultaneous laparoscopic removal of the Tenckhoff catheter. Theatient was released from the hospital 3 days later with a creatininef 93 �mol/L.

ISCUSSION

aurence-Moon-Biedl syndrome represents mostly an oph-halmologic problem and the disease is often diagnosed byphthalmologists or pediatricians. A study showed that allatients had structural or functional renal abnormalitiesnd 15% were in the advanced stage during the follow-up inhe province of Newfoundland.5 In our knowledge thereere only reports on pediatric kidney transplantation cases

n the literature so far.6–9 All had a successful course fromhe nephrological point of view, with no return of theriginal disease so far. The histopathology may represent

tubulointerstitial nephritis without specific glomerular3

hanges.10 This data gives hope for a good chance ofong-term graft function.

A rather hard decision was made by transplanting aentally retarded, blind, obese, quite old patient with theardet-Biedl subtype of the Laurence-Moon syndrome.owever, we think that it was the right decision for his case

espite his clinical complications, helping him to a higheruality of life with good teamwork of nephrologists andransplant surgeons despite the lack of a functioning socialetwork currently in Hungary.

EFERENCES

1. Editorial: Lancet 2:1178, 19882. Churchill DN, McManamon P, Hurley RM: Clin Nephrol

6:151, 19813. Beales PL: Curr Opin Genet Dev 15:315, 20054. Moore SJ, Green JS, Fan Y, et al: Am J Med Genet A

32A:352, 20055. Harnett JD, Green JS, Cramer BC: N Eng J Med 319:615,

9886. Norden G, Friman S, Frisenette-Fich C, et al: Nephrol Dial

ransplant 6:982, 19917. Collins CM, Mendoza SA, Griswold WR, et al: Pediatrephrol 8:221, 19948. Devarajan P: Pediatr Nephrol 9:397, 19959. Mohsin N, Marhuby H, Maimani Y, et al: Transplant Proc

5:2619, 200310. Sato H, Saito T, Yamakage K, et al: Nephron 49:337, 1988