Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Metabolic disturbances of proximal tubular function

Metabolic disturbances of the proximal tubular epithelial cells cause an energy deficiency, and because of that lack of energy all active transport functions fail. The reaction is an unspecific one called renotubular Fanconi syndrome.

Systematic

Genetic disorders of proximal tubular function
Endocytotic disturbances of proximal tubular function
Fanconi renotubular syndrome
Metabolic disturbances of proximal tubular function
Cystinosis
CTNS
Dent disease
CLCN5
OCRL
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Fructose intolerance
ALDOB
Galactosemia
GALT
Glycogen storage disease 1
Glycogen storage disease 1A
G6PC
Glycogen storage disease 1B
SLC37A4
Glycogen storage disease 1C
SLC37A4
Hepatorenal tyrosinemia
FAH
Lowe disease
OCRL
MELAS syndrome
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2
Wilson disease
ATP7B
Specific disturbances of proximal tubular transport

References:

1.

None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.

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2.

Sharma S et al. (2015) The role of the Lowe syndrome protein OCRL in the endocytic pathway.

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3.

Bertinat R et al. (2016) SGLT2 Inhibitors: Glucotoxicity and Tumorigenesis Downstream the Renal Proximal Tubule?

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4.

Slyne J et al. (2015) New developments concerning the proximal tubule in diabetic nephropathy: in vitro models and mechanisms.

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5.

Wakino S et al. (2015) Sirtuin and metabolic kidney disease.

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6.

Raghavan V et al. (2015) Flow stimulated endocytosis in the proximal tubule.

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7.

Klootwijk ED et al. (2015) Renal Fanconi syndrome: taking a proximal look at the nephron.

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Update: April 29, 2019