【正文】
近年來較普遍地認為 WE與 KS為同一疾病的不同階段 ,且病因及病理方面有共同性 ,故稱為 WKS。 腎小管性酸中毒 各種病因導致腎臟酸化功能障礙而產生的一種臨床綜合征 ?主要表現(xiàn):血漿陰離子間隙正常的 高氯性代謝性酸中毒 ,而與此同時腎小球濾過率則相對正常 ?本質: 腎小管泌氫障礙或腎小管碳酸氫根重吸收障礙 ?分型: I型,遠端 RTA; Ⅱ 型,近端 RTA; Ⅲ 型,兼有 I型和 Ⅱ 型 RTA的特點; Ⅳ 型,高血鉀型 RTA ?Ⅱ 型(近端)腎小管性酸中毒: 凡是累及到腎小管功能的各種原發(fā)病均能導致近端 RTA。s disease (a geically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose intolerance. ?Two forms, Dent39。s disease and Lowe syndrome, are X linked. ?A recently described form of this disease is due to a mutation in EHHADH,decreasing the production of ATP. 范可尼綜合征 Acquired ?It is possible to acquire this disease later in life. ?Causes include ingesting expired tetracyclines which damage proximal tubule, and as a side effect of tenofovir. ?Lead poisoning also leads to Fanconi syndrome. ?Multiple myeloma or monoclonal gammopathy of unde