Manz F, Schärer K
Klin Wochenschr. 1982 Sep 15;60(18):1115-25. doi: 10.1007/BF01715841.
In inherited renal tubular disorders with isolated defects of tubular transport medical treatment is usually either not indicated or is simple and effective. In some inherited metabolic disorders with complex defects of renal tubular transport a specific therapy is known. For example, in galactosemia and hereditary fructose intolerance crude products may be restricted or in cases of Wilson's disease copper stores may be reduced. In idiopathic Fanconi syndrome, cystinosis, oculocerebrorenal syndrome and glycogenosis Fanconi-Bickel, a symptomatic replacement treatment based on supplementation of water, electrolytes and vitamin D has improved the non-uremic survival of these patients considerably within the last 20 years. For long-term management of inherited renal tubular disorders, treatment of tubular dysfunction, chronic renal failure, and involved extrarenal organs must be supported by genetic counseling and assistance for social integration.
在具有肾小管转运孤立缺陷的遗传性肾小管疾病中,通常无需进行医学治疗,或治疗简单有效。在一些具有肾小管转运复杂缺陷的遗传性代谢疾病中,已知有特定的治疗方法。例如,在半乳糖血症和遗传性果糖不耐受症中,可能需要限制粗制食品;在威尔逊病中,可减少铜的储存。在特发性范科尼综合征、胱氨酸病、眼脑肾综合征和糖原贮积病范科尼 - 比克尔综合征中,基于补充水、电解质和维生素D的对症替代治疗在过去20年中显著提高了这些患者的非尿毒症生存率。对于遗传性肾小管疾病的长期管理,肾小管功能障碍、慢性肾衰竭以及受累肾外器官的治疗必须辅以遗传咨询和社会融入援助。