title: Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  ATTR amyloidosis patient was diagnosed by renal biopsy and gene sequencing.
  
  
  METHODS
  Allograft liver transplantation (LT).
  
  
  RESULTS
  Symptom relief but serum creatinine increased.
  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.
authors.affiliation: Institute of Nephrology, Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Xu
authors.forename: Meng
authors.initials: M
authors.lastname: Yang
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Pan
authors.forename: Xialian
authors.initials: X
authors.lastname: Yu
authors.forename: Jingyuan
authors.initials: J
authors.lastname: Xie
authors.forename: Hong
authors.initials: H
authors.lastname: Ren
authors.forename: Xiao
authors.initials: X
authors.lastname: Li
authors.forename: Nan
authors.initials: N
authors.lastname: Chen
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011228:Prealbumin / Q000235:genetics*; D051437:Renal Insufficiency / Q000209:etiology*; D014839:Vomiting / Q000209:etiology*
chemical_list: D011228:Prealbumin