Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fanconi-Syndrom

Das renotubuläres Fanconi-Syndrom ist eine Syndrom einer proximal tubulären Schädigung, welches durch verschiedene Abnormalitäten der renalen Exkretion gekennzeichnet ist. Es findet sich in unterschiedlichem Maße eine Aminoacidurie, Glucosurie, Phosphatdiabetes und eine proximale renale tubuläre Azidose.

Gliederung

Genetisch bedingte Störungen der proximalen Tubulusfunktion
Endozytosestörungen der proximalen Tubulusfunktion
Metabolische Störungen der proximalen Tubulusfunktion
Spezifische Transportstörungen des proximalen Tubulus

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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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17.

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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