Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation

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.