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Fanconi renotubular syndrome

Fanconi syndrome is a disease caused by proximal tubular damage. Its features include to a variable degree aminoaciduria, glucosuria, hyperphosphaturia, and proximal renal tubular acidosis.

Systematic

Genetic disorders of proximal tubular function
Endocytotic disturbances of proximal tubular function
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
Specific disturbances of proximal tubular transport

References:

1.

Tieder M et al. (1988) Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome.

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2.

Smith R et al. (1976) Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus.

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3.

Patrick A et al. (1981) A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.

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4.

Brenton DP et al. (1981) The adult presenting idiopathic Fanconi syndrome.

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5.

Bovée KC et al. (1978) Spontaneous Fanconi syndrome in the dog.

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6.

Wen SF et al. (1989) Two case studies from a family with primary Fanconi syndrome.

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7.

Friedman AL et al. (1978) Autosomal dominant Fanconi syndrome with early renal failure.

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8.

DENT CE et al. (1951) The genetics of cystinuria.

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9.

Sheldon W et al. (1961) A Familial Tubular Absorption Defect of Glucose and Amino Acids.

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10.

LUDER J et al. (1955) A familial tubular absorption defect of glucose and amino acids.

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11.

BEN-ISHAY D et al. (1961) Fanconi syndrome with hypouricemia in an adult: family study.

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12.

ENGLE RL et al. (1957) The adult Fanconi syndrome. II. Review of eighteen cases.

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13.

DENT CE et al. (1956) Hereditary forms of rickets and osteomalacia.

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14.

Lichter-Konecki U et al. (2001) Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.

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15.

Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

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16.

Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.

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17.

Magen D et al. (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

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18.

OMIM.ORG article

Omim 615605 external link
19.

Orphanet article

Orphanet ID 3337 external link
20.

Wikipedia article

Wikipedia EN (Fanconi_syndrome) external link
Update: Aug. 14, 2020
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