Ortiz Méndez V M, Bonilla Aguirre R, Farfán Boldo J, Velázquez A, Olvera Hidalgo C
Bol Med Hosp Infant Mex. 1981 Jan-Feb;38(1):169-75.
A male infant with clinical and radiological manifestations of hypophosphatemic rickets is presented. He had dysfunction of the renal tubular mechanisms of reabsorption manifested by: glycosuria, hyperaminoaciduria, hyperphosphaturia and high alkaline phosphatase plasma levels; associated with hepatic cirrhosis. Biochemical screening discarded most of the main known causes of Toni-Debré-Fanconi syndrome. Unfortunately, due to the low incidence of the syndrome and the patient's death, it was impossible to reach an accurate diagnosis. A review of the syndrome is presented.
本文介绍了一名患有低磷性佝偻病临床和放射学表现的男婴。他存在肾小管重吸收机制功能障碍，表现为：糖尿、高氨基酸尿、高磷尿和血浆碱性磷酸酶水平升高；并伴有肝硬化。生化筛查排除了托尼 - 德布雷 - 范科尼综合征的大多数主要已知病因。不幸的是，由于该综合征发病率低且患者死亡，无法得出准确诊断。本文对该综合征进行了综述。
