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Less common disorders:F

2025-04-16 生物化学 加入收藏
佚名 DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMSFanconi's syndromeIn

佚名  

 

DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMS
Fanconi's syndrome

  • Inherited renal tubular transport disorder
Changes in the proximal renal tubules due to atrophy of epithelial cells and loss of proximal tube volume results in a shortened connection to glomeruli by an unusually narrow segment. Malfunction of the proximal renal tubules leads to hyperkalemia, hypernatremia, glycosuria, phosphaturia, aminoaciduria, uricosuria, retarded growth, and rickets.Mostly normal appearance at birth with slightly lower birth weights
  • After 6 months: weakness, failure to thrive, dehydration, cystine crystals in the corners of the eye, and retinal pigment degeneration
  • Yellow skin with little pigmentation
  • Slow linear growth


 


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