Specific disturbances of proximal tubular transport are caused by a deficiency of a specific tubular transporter. The range of symptoms include mere abnormalities in blood or urine up to severe organ damage. The management usually consists in sufficient supplementation.
|Genetic disorders of proximal tubular function|
|Endocytotic disturbances of proximal tubular function|
|Fanconi renotubular syndrome|
|Metabolic disturbances of proximal tubular function|
|Specific disturbances of proximal tubular transport|
|Erythrocyte lactate transporter defect|
|Fanconi renotubular syndrome|
|Autosomal dominant idiopathic Fanconi syndrome|
|Fanconi renotubular syndrome 1|
|Fanconi renotubular syndrome 2|
|Fanconi renotubular syndrome 3|
|Lysinuric protein intolerance|
|Monocarboxylate transporter 1 deficiency|
|Disorders of the renal phosphate transporters|
|Hypophosphatemic rickets with hypercalciuria|
|Idiopathic basal ganglia calcification 1|
|Nephrolithiasis/osteoporosis, hypophosphatemic, 1|
|Nephrolithiasis/osteoporosis, hypophosphatemic, 2|
|Proximal renal tubular acidosis|
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OMIM.ORG articleOmim 230400