Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: Case Report

Muller, Kate; Padbury, Rob; Jeffrey, Gary P.; Poplawski, Nicola; Thompson, Philip D.; Tonkin, Anne; Harley, Hugh

doi:10.1002/lt.22019

Cited by 4 publications

(6 citation statements)

References 19 publications

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“… 19 , 28 - 31 Risk factors that have been noted to especially shorten survival are central nervous system manifestations and cardiomyopathy. 4 , 32 , 33 In addition, in the Familial Amyloid Polyneuropathy World Transplant Registry (FAPWTR), patients with non-Val30Met mutations have been recognized as having poorer outcomes than patients with the Val30Met mutation, 25 but an analysis of the survival associated with the various mutations in the registry has not been presented. Only a few reports have analyzed the outcome of simultaneous or sequential HTx and LTx.…”

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confidence: 99%

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Survival After Transplantation in Patients With Mutations Other Than Val30Met

et al. 2016

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BackgroundLiver transplantation (LTx) has been performed for hereditary transthyretin amyloidosis (ATTR) since 1990. Outcomes for a relatively large series of LTx ATTR patients with the Val30Met (mutation are available, but for non-Val30Met patients, only a few reports with a small number of patients exist. Here, we present outcomes for non-Val30Met ATTR patients after LTx, as reported to the Familial Amyloid Polyneuropathy World Transplant Registry (FAPWTR).MethodsData regarding outcome were extracted for all non-Val30Met patients reported to the registry. Survival rates were analyzed by the Kaplan-Meier method and log-rank test.ResultsThe total number of patients with a non-Val30Met mutation in the registry was 264 (174 men and 90 women), representing 57 mutations. The 10-year survival varied markedly for the 9 most common mutations, ranging from 21% for Ser50Arg to 85% for Val71Ala. Poor survival was noted for all mutations with leptomeningeal complications except for those with the Tyr114Cys mutation.ConclusionsLarge differences in survival were observed relative to different mutations and between mutations with similar phenotypes. Excellent survival was noted for mutations, such as Leu111Met, Val71Ala, and Leu58His. Patients with mutations other than Val30Met are not a homogeneous group, and the term non-Val30Met should be used with caution or avoided. Moreover, for several mutations, data are too limited to allow evaluation of the efficacy of LTx, and continuous international collaboration is important for obtaining treatment guidance.

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confidence: 99%

“…Although outcomes for non-Val30Met patients have been reported as poor compared with those for Val30Met patients, differences associated with various mutations have been described. 4 , 21 , 27 , 32 The aim of the present study was to assess the long-term survival of non-Val30Met patients after LTx and combined LTx/HTx based on the data in the FAPWTR.…”

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confidence: 99%

Survival After Transplantation in Patients With Mutations Other Than Val30Met

et al. 2016

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“…Previous literature experience of liver or kidney transplant in siblings has disseminated mainly through case reports. [2][3][4][5][6][7][8] In pediatric cases, the indications for liver transplant were type IV glycogen storage disease, 4 familial hypercholesterolemia, 5 and Crigler-Najjar syndrome. 3 Adult sibling liver transplant recipients generally had amyloid metabolic disturbances.…”

Section: Discussionmentioning

confidence: 99%

“…3 Adult sibling liver transplant recipients generally had amyloid metabolic disturbances. 2,7,8 Other indications were related to altered cholesterol metabolism. 6 In our series, the indications for orthotopic liver transplant in pediatric cases were biliary cirrhosis, Wilson disease, hepatocellular Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; CRP, C-reactive protein; FFP, fresh frozen plasma; INR, international normalized ratio; PRBC, packed red blood cell; RRT, renal replacement therapy carcinoma, and hyperoxalosis; in adult cases, the indications were viral hepatitis and biliary cirrhosis.…”

Section: Discussionmentioning

confidence: 99%

Untitled

Ersoy

Özdemirkan²,

Pirat³

et al. 2015

Exp Clin Transplant

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Objectives: Reasons for chronic liver and kidney failure may vary; sometimes more than 1 family member may be affected, and may require a transplant. The aim of this study was to examine the similarities or differences between the perioperative characteristics of siblings undergoing liver or kidney transplant. Materials and Methods:The medical records of 6 pairs of siblings who underwent liver transplant and 4 pairs of siblings who underwent kidney transplant at Baskent University Hospital between 1989 and 2014 were retrospectively analyzed. Collected data included demographic features; comorbidities; reasons for liver and kidney failure; perioperative laboratory values; intraoperative hemodynamic parameters; use and volume of crystalloids, colloids, blood products, cell saver system, and albumin; duration of anesthesia; urine output; and postoperative follow-up data. Results: The mean age of the 6 sibling pairs who underwent liver transplant was 16.3 ± 12.2 years. All 12 patients had Child-Pugh grade B cirrhosis, with mean disease duration of 7.8 ± 3.9 years. There were no significant differences between siblings with respect to intraoperative blood product transfusion, crystalloid and colloid fluid replacements, hypotension frequency, blood gas analyses, urinary output, duration of anhepatic phase, inotropic agent administration, postoperative laboratory values, need for mechanical ventilation and vasopressors, occurrence of acute renal failure and infections, and duration intensive care unit stay (P > .05). The mean age of the 4 sibling pairs who underwent kidney transplant was 21.3 ± 6.4 years, with mean duration of renal insufficiency of 2.2 ± 1.6 years. There were no significant differences between siblings with respect to intraoperative crystalloid and colloid fluid administration, duration of anesthesia, intraoperative mannitol and furosemide administration, and postoperative laboratory values (P > .05). Conslusions: In conclusion, the 6 sibling pairs who underwent liver transplant and 4 sibling pairs who underwent kidney transplant in our cohort had similar perioperative characteristics.

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“…The results of LTA for TTR-FAP are good as reported by the data of single institutions (61) or by the transplant registry (62). The worse outcomes are related to cardiac amyloidosis (63), and in a few cases combined heart-liver transplantation has been attempted (64,65).…”

Section: Transthyretin-type Familial Amyloidosis Polyneuropathymentioning

confidence: 90%

Liver Transplantation for Monogenic Metabolic Diseases Involving the Kidney

Salvadori

Tsalouchos

2017

jrenhep

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Several metabolic monogenic diseases may be cured by liver transplantation alone (LTA) or by combined liver–kidney transplantation (CLKT) when the metabolic disease has caused end-stage renal disease. Liver transplantation may be regarded as a substitute for an injured liver or as supplying a tissue that may replace a mutant protein. Two groups of diseases should be distinguished. In the first group, the kidney tissue may be severely damaged while the liver tissue is almost normal. In this group, renal transplantation is recommended according to the degree of renal damage and liver transplantation is essential as a genetic therapy for correcting the metabolic disorder. In the second group, the liver parenchymal damage is severe. In this group, liver transplantation is essential to avoid liver failure. LTA may also avoid the progression of the renal disease; otherwise a CLKT is needed. In this review, we describe monogenic metabolic diseases involving the kidney that may have beneficial effects from LTA or CLKT. We also highlight the limitations of such procedures and the choice of alternative medical conservative treatments.

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Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: Case Report

Cited by 4 publications

References 19 publications

Survival After Transplantation in Patients With Mutations Other Than Val30Met

Survival After Transplantation in Patients With Mutations Other Than Val30Met

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Liver Transplantation for Monogenic Metabolic Diseases Involving the Kidney

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