The Fanconi Syndrome

摘要: Publisher Summary This chapter focuses on a group of congenital and acquired disorders that are not due to single solute transporter defect but rather appear result from more generalized heterogeneous dysfunctions the entire proximal tubule. The complete or classical Fanconi syndrome may be defined as an impairment tubule reabsorption sodium, bicarbonate, potassium, phosphate, glucose, amino acids, uric acid low-molecular-weight proteins, peptides, well other organic solutes. Cystinosis is most common cause in childhood serves prototype this syndrome. lysosomal storage disorder where defective cystine transporter, cystinosin, fails extrude lysosomes. Fumarylacetoacetate hydrolase (FAH) liver kidney last enzyme tyrosine catabolic pathway. Patients with mutations FAH have tyrosinemia develop after ingestion phenylalanine. One accumulated metabolites, succinylacetone, nephrotoxic sole agent. Over short term, reversible upon removal phenylalanine diet. Heavy metals (cadmium, mercury, lead, chromium, platinum) transported by also toxic same epithelia. prime target heavy metal toxicity because its ability accumulate metals. In humans, chronic exposure can range renal failure. Cadmium-induced usually only occurs years industrial exposure, while lead-induced occur large acute prolonged low levels exposure.