Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Proximale renale tubuläre Azidose

Die autosomal rezessive proximale tubuläre Azidose ist eine metablische Azidose, die durch massive renale Verluste von Bicarbonat entsteht. Mutationen des SLC4A4-Gens sind verantwortlich. Aus dem Verlust von Bicarbonat resultiert eine Hyperchlorämie. Im Unterschied zur distalen renalen tubulären Azidose können die Betroffenen einen sauren Harn produzieren. Weisere Symptome sind Augenveränderungen und mentale Retardierung.

Gliederung

Renale tubuläre Azidose
Distale renale tubuläre Azidose (autosomal dominant)
Distale renale tubuläre Azidose (autosomal rezessiv)
Distale renale tubuläre Azidose mit Schwerhörigkeit (autosomal rezessiv)
Gemischte renale tubuläre Azidose 3 mit Osteopetrose 3
Proximale renale tubuläre Azidose
SLC4A4
Renale tubuläre Azidose mit Arthrogrypose

Referenzen:

1.

de Ligt J et al. (2012) Diagnostic exome sequencing in persons with severe intellectual disability.

[^]
2.

Raychowdhury R et al. (1989) Autoimmune target in Heymann nephritis is a glycoprotein with homology to the LDL receptor.

[^]
3.

Chatelet F et al. (1986) Ultrastructural localization by monoclonal antibodies of brush border antigens expressed by glomeruli. II. Extrarenal distribution.

[^]
4.

Kerjaschki D et al. (1983) Immunocytochemical localization of the Heymann nephritis antigen (GP330) in glomerular epithelial cells of normal Lewis rats.

[^]
5.

Moestrup SK et al. (1995) Evidence that epithelial glycoprotein 330/megalin mediates uptake of polybasic drugs.

[^]
6.

Farquhar MG et al. (1995) The Heymann nephritis antigenic complex: megalin (gp330) and RAP.

[^]
7.

Chowdhary BP et al. (1995) In situ hybridization mapping of a 500-kDa calcium-sensing protein gene (LRP2) to human chromosome region 2q31>q32.1 and porcine chromosome region 15q22>q24.

[^]
8.

None (1995) The unfolding story of megalin (gp330): now recognized as a drug receptor.

[^]
9.

Kounnas MZ et al. (1995) Identification of glycoprotein 330 as an endocytic receptor for apolipoprotein J/clusterin.

[^]
10.

Saito A et al. (1994) Complete cloning and sequencing of rat gp330/"megalin," a distinctive member of the low density lipoprotein receptor gene family.

[^]
11.

Korenberg JR et al. (1994) Chromosomal localization of human genes for the LDL receptor family member glycoprotein 330 (LRP2) and its associated protein RAP (LRPAP1).

[^]
12.

Donnai D et al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

[^]
13.

Hjälm G et al. (1996) Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties.

[^]
14.

Willnow TE et al. (1996) Defective forebrain development in mice lacking gp330/megalin.

[^]
15.

Devriendt K et al. (1998) Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

[^]
16.

Nykjaer A et al. (1999) An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3.

[^]
17.

Marinò M et al. (1999) Serum antibodies against megalin (GP330) in patients with autoimmune thyroiditis.

[^]
18.

Leheste JR et al. (1999) Megalin knockout mice as an animal model of low molecular weight proteinuria.

[^]
19.

Schmitz C et al. (2002) Megalin deficiency offers protection from renal aminoglycoside accumulation.

[^]
20.

Nykjaer A et al. (2001) Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).

[^]
21.

Chassaing N et al. (2003) Donnai-Barrow syndrome: four additional patients.

[^]
22.

Nagai M et al. (2003) The adaptor protein ARH escorts megalin to and through endosomes.

[^]
23.

Tramontano A et al. (2004) Conformation and glycosylation of a megalin fragment correlate with nephritogenicity in Heymann nephritis.

[^]
24.

Hammes A et al. (2005) Role of endocytosis in cellular uptake of sex steroids.

[^]
25.

Naccache SN et al. (2006) Binding of internalized receptors to the PDZ domain of GIPC/synectin recruits myosin VI to endocytic vesicles.

[^]
26.

Caruso-Neves C et al. (2006) PKB and megalin determine the survival or death of renal proximal tubule cells.

[^]
27.

Kantarci S et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

[^]
28.

Fyfe JC et al. (1991) Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs.

[^]
29.

Aminoff M et al. (1995) Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

[^]
30.

Bork P et al. (1993) The CUB domain. A widespread module in developmentally regulated proteins.

[^]
31.

Seetharam B et al. (1997) Identification of rat yolk sac target protein of teratogenic antibodies, gp280, as intrinsic factor-cobalamin receptor.

[^]
32.

Birn H et al. (1997) Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein.

[^]
33.

Moestrup SK et al. (1998) The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins.

[^]
34.

Kozyraki R et al. (1998) The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.

[^]
35.

Aminoff M et al. (1999) Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

[^]
36.

Kozyraki R et al. (1999) The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.

[^]
37.

Xu D et al. (1999) Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption.

[^]
38.

Kristiansen M et al. (2000) Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.

[^]
39.

Fyfe JC et al. (2004) The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

[^]
40.

Andersen CB et al. (2010) Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.

[^]
41.

Storm T et al. (2011) A patient with cubilin deficiency.

[^]
42.

None (1979) Abstracts of meeting presentations.

[^]
43.

Tedesco TA et al. (1975) The genetic defect in galactosemia.

[^]
44.

Kaufman F et al. (1979) Ovarian failure in galactosaemia.

[^]
45.

Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

[^]
46.

Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

[^]
47.

Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

[^]
48.

Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

[^]
49.

Benson PF et al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

[^]
50.

Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

[^]
51.

Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

[^]
52.

Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.

[^]
53.

Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

[^]
54.

Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.

[^]
55.

Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.

[^]
56.

Brivet M et al. (1989) Effect of lactation in a mother with galactosemia.

[^]
57.

Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

[^]
58.

Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

[^]
59.

Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.

[^]
60.

Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

[^]
61.

Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.

[^]
62.

Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.

[^]
63.

Kelly S et al. (1972) A Duarte variant with clinical signs.

[^]
64.

Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].

[^]
65.

Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

[^]
66.

None (1967) Clinical variants of galactosemia.

[^]
67.

Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

[^]
68.

Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

[^]
69.

Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

[^]
70.

Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

[^]
71.

Shih LY et al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

[^]
72.

Eriksen B et al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

[^]
73.

Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

[^]
74.

Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

[^]
75.

Mulcahy MT et al. (1980) Where is the gene for GALT?

[^]
76.

Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

[^]
77.

Dagna Bricarelli F et al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

[^]
78.

Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

[^]
79.

Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

[^]
80.

Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

[^]
81.

Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

[^]
82.

Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

[^]
83.

Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

[^]
84.

Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

[^]
85.

Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

[^]
86.

Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

[^]
87.

Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.

[^]
88.

Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.

[^]
89.

Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

[^]
90.

Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

[^]
91.

Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

[^]
92.

Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

[^]
93.

Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

[^]
94.

Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

[^]
95.

Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

[^]
96.

de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

[^]
97.

Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

[^]
98.

Elsas LJ et al. () The molecular biology of galactosemia.

[^]
99.

Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

[^]
100.

Webb AL et al. (2003) Verbal dyspraxia and galactosemia.

[^]
101.

DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

[^]
102.

WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

[^]
103.

BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

[^]
104.

Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.

[^]
105.

None (2006) Classical galactosaemia revisited.

[^]
106.

Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

[^]
107.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

[^]
108.

Winsnes A et al. (1979) Congenital persistent proximal type renal tubular acidosis in two brothers.

[^]
109.

Nash MA et al. (1972) Renal tubular acidosis in infants and children. Clinical course, response to treatment, and prognosis.

[^]
110.

Sebastian A et al. (1971) On the mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA).

[^]
111.

Rodriguez Soriano J et al. (1967) Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification.

[^]
112.

Igarashi T et al. (1994) Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity.

[^]
113.

Igarashi T et al. (1999) Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.

[^]
114.

Igarashi T et al. (2001) Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

[^]
115.

OMIM.ORG article

Omim 604278 [^]
116.

Orphanet article

Orphanet ID 47159 [^]
Update: 10. Mai 2019