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1/39. Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene.

    Two Spanish sibs with familial amyloidotic polyneuropathy (FAP) homozygous for the V30M-TTR gene, were diagnosed by dna and protein analyses. Their clinical picture was very similar to the Majorcan FAP heterozygous patients except for the sensorimotor syndrome which was more aggressive. Noteworthy were clinical differences between the sibs concerning autonomic involvement, cranial neuropathy and kidney disturbances. These differences can be due to genetic and/or environmental factors. ( info)

2/39. Application of liver transplantation for familial amyloid polyneuropathy combined with Crohn's disease.

    We describe the case of a 31-year-old Japanese man with familial amyloid polyneuropathy combined with Crohn's disease, who underwent living-related orthotopic liver transplantation. Although he had a 2-year history of alternating constipation/diarrhea, his bowel symptoms exacerbated severely during the period he was in our ward for pretransplant evaluation. Small bowel barium examination and gastroduodenal endoscopy showed typical features of Crohn's disease. He was diagnosed as having active Crohn's disease, and the scheduled living-related orthotopic liver transplantation was postponed. After controlling the active disease with conservative therapy for two months, he underwent living-related orthotopic liver transplantation using a graft of the left lobe from his father. Postoperative medication consisted of azathioprine, aminosalicylates, tacrolimus and steroids. His postoperative course was uneventful, and he was discharged from hospital on the 25th postoperative day. Pre- and postoperative transplant management of patients with Crohn's disease is also discussed, because it influences the clinical course of inflammatory bowel diseases. ( info)

3/39. A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.

    OBJECTIVE: To report a case of familial amyloid polyneuropathy homozygous for the amyloidogenic transthyretin (ATTR) Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings. methods: mass spectrometry analysis and polymerase chain reaction-restricting fragment length polymorphism were performed. A right sural nerve biopsy specimen was obtained for histological investigation. SETTING: Academic medical center. RESULTS: A 56-year-old Japanese man living in a local town (Nakajima, japan) in Ishikawa Prefecture, a nonendemic area of type I familial amyloidotic polyneuropathy, had vitreous amyloidosis, motor-dominant sensorimotor polyneuropathy, erectile dysfunction, and urinary incontinence. He had neither orthostatic hypotension nor indolent diarrhea. Restriction enzyme analysis with EcoT22 I of amplified dna and mass spectrometry analysis revealed homozygosity for ATTR Val30Met. Of 8 family members, 5 were evaluated and found to be heterozygous for ATTR Val30Met; a family history found no relative with the similar neurologic disorders. The sural nerve biopsy specimen showed focal edema and an amyloid deposit in the subperineural tissue, associated with moderate loss of myelinated and unmyelinated fibers. CONCLUSIONS: In addition to the findings characteristic of homozygosity for ATTR Val30Met such as vitreous amyloidosis and relatively less autonomic involvements, this case had the unique findings of motor-dominant sensorimotor polyneuropathy and unusual sural nerve biopsy specimen results. ( info)

4/39. ABO-incompatible auxiliary partial orthotopic liver transplant for late-onset familial amyloid polyneuropathy.

    A 60-year-old Japanese man with late-onset familial amyloid polyneuropathy type I (FAP transthyretin Met30) showed clinical improvement following auxiliary partial orthotopic liver transplantation (APOLT) from an ABO-incompatible living related donor. Preoperatively, plasmapheresis and immunosuppressant drugs were used to reduce serum antibodies against the donor's ABO type. APOLT was chosen so the residual liver could sustain the patient in the event of hyperacute rejection. OLT is applicable to late-onset FAP transthyretin Met30, and APOLT can be considered in ABO-incompatible cases. ( info)

5/39. Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25.

    We report a 52-year-old woman with a novel transthyretin (TTR) variant serine replacing alanine at residue 25 [Ala25Ser (serine 25)], who showed a unique clinical picture with a relatively acute onset neuropathy within a few days of an influenza vaccination, progressing to a severe degree within 2 years. sural nerve biopsy revealed amyloid deposition in the endoneurium. Sequencing of the proband's dna revealed a G to T transversion at the first position of codon 25 of TTR gene. dna analysis of this family showed the same mutation in her older sister and a niece, but her parents did not have the mutation. Haplotype analysis revealed the mutation to be clearly linked to haplotype III allele inherited from the proband's father. These results indicate this novel serine 25 mutation originated in the paternal germline mosaicism. It is possible that the vaccination had an influence on the unique clinical picture, but this remains uncertain. ( info)

6/39. Temporary auxiliary liver transplantation from a living donor to an adult recipient with familial amyloid polyneuropathy.

    A 33-year-old patient with familial amyloid polyneuropathy (FAP) underwent temporary auxiliary partial orthotopic liver transplantation (APOLT) from a living donor with a small-for-size graft. The auxiliary left lobar graft, which weighed only 230 g, was orthotopically transplanted after resection of the recipient's left lobe. The right portal vein was transected to induce compensatory hypertrophy of the left lobar graft. Posttransplant computed tomography showed atrophy of the native liver and hypertrophy of the graft, the volume of which had increased to 446 ml by postoperative day 41. The remnant native liver was removed 6 weeks after APOLT, and there were no signs of liver dysfunction during the postoperative course. Our experience with this case suggests that temporary APOLT is the treatment of choice, guaranteeing a sufficient margin of safety for both donor and recipient, in living donor liver transplants for FAP where the donor's left lobe is disproportionately small. ( info)

7/39. Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy.

    A Japanese case with familial amyloidotic polyneuropathy (FAP) associated with the transthyretin mutation Thr60Ala (Appalachian-type mutation) is described This is the first reported case of a non-Caucasian harboring this type of TTR mutation. The patient developed severe late-onset restrictive cardiomyopathy as well as sensorimotor and autonomic polyneuropathy, which were essentially similar to the previously reported clinical pictures of Appalachian-type FAP. ( info)

8/39. Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred.

    The most frequent localization of amyloid in transthyretin (TTR) mutations is in the peripheral nerve, causing familial amyloidpolyneuropathy (FAP). It is generally accompanied by involvement of other organs such as the myocardium and kidney. To date, over 70 TTR point mutations have been reported in literature, with different phenotypes depending on the location of the mutation in the TTR gene. This paper deals with a point mutation in exon 2 position 47 of the TTR gene, encoding the substitution of glycine with glutamate. The mutation was found in an Italian family with 5 patients over 3 generations. The phenotype was characterised by peripheral neuropathy and autonomic dysfunction, associated in some patients with cardiomyopathy and renal involvement. The symptoms were very severe and the patients did not survive long, thus suggesting the aggressive nature of the pathological process. Moreover, in the succeeding generations of this family, there was genetic anticipation in the age of onset of the disease. ( info)

9/39. Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy.

    A 70-year-old Japanese man with amyloid polyneuropathy associated with a Val 107 transthyretin (TTR) mutation is reported. The patient presented with carpal tunnel syndrome, cardiomyopathy, bulbar palsy, dysphonia and polyneuropathy. dna analysis of the TTR gene revealed a point mutation responsible for substitution of valine for isoleucine at position 107 of the TTR molecule. Taken together with reports of patients with the same TTR variant, Val 107 TTR mutation is probably associated with a clinical phenotype characterized by carpal tunnel syndrome, cardiomyopathy, bulbar palsy and dysphonia. This case implies a worldwide distribution of the Val 107 TTR mutation with a common clinical phenotype, despite different ethnic background. ( info)

10/39. Familial amyloidotic polyneuropathy presenting with rubeotic glaucoma.

    A 78-year-old man with familial amyloidotic polyneuropathy type I (Met30), presented with rubeotic glaucoma 9 months following an uncomplicated vitrectomy for vitreous amyloidosis. There was retinal neovascularization and extensive retinal vascular closure. In the preceding 9 months, episodes of 'uveitis' and high intraocular pressure are thought to be due to amyloid protein released into the aqueous leading to trabecular meshwork obstruction and high intraocular pressures, thus compounding the ocular ischaemia created by amyloid vascular closure. The patient underwent pan-retinal photocoagulation and Molteno implant surgery. The rubeosis regressed and pressure control was gained but sight was lost. ( info)
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