Abstract: Corresponding Author E-mail: lidong430@126.com Abstract: Inherited Fanconi syndrome is a kind of rare hereditary disorder, usually affecting kidney proximal tubule, kidney, liver and bones. HNF4A gene mutation is one of genetic causes with unclear pathogenicity mechanisms, leading to loss of nutrients and electrolyte disturbances due to kidney proximal tubule reabsorption defect. There are only a few cases reported in China on the clinical and genetic studies of inherited Fanconi syndrome. There is rarely a genetically diagnosed case report. In this study, the proband was a 16-year-old boy. HNF4A gene sequencing was performed, and a heterozygous mutation c.187C>T (p.R63W) was detected in the HNF4A gene, which was not detected in proband’s parents. The patient was diagnosed as inherited Fanconi syndrome by clinical and genetics. The patient was treated with L-carnitine, coenzyme Q10, acidosis correction, liver and kidney protectant and vitamin D supplement, and therapy of improved mitochondrial func⁃ tion. The patient was followed up, and the clinical symptoms were improved.

Key words: Fanconi syndrome, rickets, hypoaldosteronism, genes, HNF4A gene