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.

Interv

SUBMITTER: Xu J 

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

REPOSITORIES: biostudies-literature