Dataset Information

Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.

ABSTRACT:

Rationale

Hereditary amyloidosis is diagnosed worldwidely with an increasing incidence. As the most common form, transthyretin-related hereditary amyloidosis (ATTR amyloidosis) is an autosomal dominant inherited disease due to mutations of TTR. Over the past several decades, more than 130 mutations have been reported. Previous studies suggested that ATTR amyloidosis initially showed polyneuropathy and autonomic dysfunction but later involving many visceral organs, such as kidney.

Patient concerns

A young proband carrying TTR p.Leu75Pro mutation, a reported aggressive variant, initially presenting repeat vomiting and impaired renal function was described in a Chinese family.

Diagnoses

ATTR amyloidosis patient was diagnosed by renal biopsy and gene sequencing.

Interventions

Allograft liver transplantation (LT).

Outcomes

Symptom relief but serum creatinine increased.

Lessons subsections

This case illustrated the clinical and pathologic phenotype of an ATTR amyloidosis patient who initially presented impaired renal function and p.Leu75Pro variant was found by sequencing the coding region of TTR gene. Kidney is one of the most common and vulnerable organs of amyloidosis, and renal function should be closely monitored.

SUBMITTER: Xu J

PROVIDER: S-EPMC5348144 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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Publications

Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.

Xu Jing J Yang Meng M Pan Xiaoxia X Yu Xialian X Xie Jingyuan J Ren Hong H Li Xiao X Chen Nan N

Medicine 20170301 10

<h4>Rationale</h4>Hereditary amyloidosis is diagnosed worldwidely with an increasing incidence. As the most common form, transthyretin-related hereditary amyloidosis (ATTR amyloidosis) is an autosomal dominant inherited disease due to mutations of TTR. Over the past several decades, more than 130 mutations have been reported. Previous studies suggested that ATTR amyloidosis initially showed polyneuropathy and autonomic dysfunction but later involving many visceral organs, such as kidney.<h4>Pati ...[more]

PMID: 28272196

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Project description:ImportanceTransthyretin gene silencing is an emerging treatment strategy for hereditary transthyretin (ATTRv) amyloidosis.ObjectiveTo evaluate eplontersen, an investigational ligand-conjugated antisense oligonucleotide, in ATTRv polyneuropathy.Design, setting, and participantsNEURO-TTRansform was an open-label, single-group, phase 3 trial conducted at 40 sites across 15 countries (December 2019-April 2023) in 168 adults with Coutinho stage 1 or 2 ATTRv polyneuropathy, Neuropathy Impairment Score 10-130, and a documented TTR variant. Patients treated with placebo from NEURO-TTR (NCT01737398; March 2013-November 2017), an inotersen trial with similar eligibility criteria and end points, served as a historical placebo ("placebo") group.InterventionsSubcutaneous eplontersen (45 mg every 4 weeks; n = 144); a small reference group received subcutaneous inotersen (300 mg weekly; n = 24); subcutaneous placebo weekly (in NEURO-TTR; n = 60).Main outcomes and measuresPrimary efficacy end points at week 65/66 were changes from baseline in serum transthyretin concentration, modified Neuropathy Impairment Score +7 (mNIS+7) composite score (scoring range, -22.3 to 346.3; higher scores indicate poorer function), and Norfolk Quality of Life Questionnaire-Diabetic Neuropathy (Norfolk QoL-DN) total score (scoring range, -4 to 136; higher scores indicate poorer quality of life). Analyses of efficacy end points were based on a mixed-effects model with repeated measures adjusted by propensity score weights.ResultsAmong 144 eplontersen-treated patients (mean age, 53.0 years; 69% male), 136 (94.4%) completed week-66 follow-up; among 60 placebo patients (mean age, 59.5 years; 68% male), 52 (86.7%) completed week-66 follow-up. At week 65, adjusted mean percentage reduction in serum transthyretin was -81.7% with eplontersen and -11.2% with placebo (difference, -70.4% [95% CI, -75.2% to -65.7%]; P < .001). Adjusted mean change from baseline to week 66 was lower (better) with eplontersen vs placebo for mNIS+7 composite score (0.3 vs 25.1; difference, -24.8 [95% CI, -31.0 to -18.6; P < .001) and for Norfolk QoL-DN (-5.5 vs 14.2; difference, -19.7 [95% CI, -25.6 to -13.8]; P < .001). Adverse events by week 66 that led to study drug discontinuation occurred in 6 patients (4%) in the eplontersen group vs 2 (3%) in the placebo group. Through week 66, there were 2 deaths in the eplontersen group consistent with known disease-related sequelae (cardiac arrhythmia; intracerebral hemorrhage); there were no deaths in the placebo group.Conclusions and relevanceIn patients with ATTRv polyneuropathy, the eplontersen treatment group demonstrated changes consistent with significantly lowered serum transthyretin concentration, less neuropathy impairment, and better quality of life compared with a historical placebo.Trial registrationClinicalTrials.gov Identifier: NCT04136184; EU Clinical Trials Register: EudraCT 2019-001698-10.

Dataset Information

Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.

Rationale

Patient concerns

Diagnoses

Interventions

Outcomes

Lessons subsections

Publications

Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.

Similar Datasets

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