Bertolani M F, Pellegrino A M, Summa C, Scalera E
Istituto di Clinica Pediatrica e Scuola di Specializzazione in Pediatria II, Università degli Studi di Modena.
Minerva Pediatr. 1990 Jan-Feb;42(1-2):1-7.
The Authors report an unusual case of tyrosinosis in which neonatal metabolic screenings were not performed and the diagnosis was made only at 4 years of age. The diet induced an improvement of cirrhosis but did not influence renal tubular damage. The authors stress the diagnostic differential elements against other cirrhogenic metabolic diseases and emphasize the prospectives of liver transplantation.
作者报告了一例罕见的酪氨酸血症病例，该病例未进行新生儿代谢筛查，直到4岁才确诊。饮食改善了肝硬化，但对肾小管损伤没有影响。作者强调了与其他致肝硬化代谢疾病的鉴别诊断要点，并强调了肝移植的前景。
