Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Genetic disorders of proximal tubular function

The group of disorders of proximal tubular function comprises unspecific metabolic disorders which represent a renotubular Fanconi syndrome and specific defects of tubular transport.

Pathogenesis

Proximal tubule has a unique role among renal tubules. It has to retrieve the essential components of the primary ultrafiltrate. Those include proteins, lipids with vitamins and hormones, glucose, amino acids, bicarbonate, phosphate, and urate. Most of these transport processes are energy dependent therefore it comes as no surprise that metabolic cellular damage results in an unspecific disturbance of all these transport functions, the renotubular Fanconi syndrome. Besides this unspecific tubular injury all of these transporters can be deficient by a specific genetic mutation. These deficiencies result in isolated urine or serum abnormalities.

Systematic

Disorders of tubular solute transport
Genetic disorders of proximal tubular function
Endocytotic disturbances of proximal tubular function
Donnai-Barrow syndrome
LRP2
Imerslund-Grasbeck syndrome
AMN
CUBN
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
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
Aminoaciduria
Cystinuria
SLC3A1
SLC7A9
Dicarboxylic aminoaciduria
SLC1A1
Erythrocyte lactate transporter defect
SLC16A1
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
Hartnup disorder
SLC6A19
Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8
Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
SLC20A2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1
Monosacchariduria
Fructosuria
KHK
Glucose-Galactose Malabsorption
SLC5A1
Renal Glucosuria
SLC5A2
Proximal renal tubular acidosis
SLC4A4
Renal Hypouricemia
SLC22A12
SLC2A9
Hereditary Salt-wasting tubulopathies
Inherited disorders of calcium balance
Liddle syndrome
Nephrogenic diabetes insipidus
Pseudohypoaldosteronism
Renal tubular acidosis

References:

1.

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

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Update: Sept. 26, 2018