Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

Pediatric Nephrology

Volumn 14, Issue 5, 2000, Pages 376-384

  Langen, Hendrik ^a   Von Kietzell, Dorothea ^a   Byrd, Dennis ^a   Arslan Kirchner, Mine ^a   Vester, Udo ^a   Stuhrmann, Manfred ^a   Dörk, Thilo ^a   Saar, Kathrin ^b   Reis, André ^b   Schmidtke, Jörg ^a   Brodehl, Johannes ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

Genetic localization of non type I cystinuria; Renal polyamine excretion; SLC3A1 mutation analysis; Tubular amino acid reabsorption

Indexed keywords

AMINO ACID; ARGININE; CYSTINE; LYSINE; ORNITHINE; POLYAMINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 19Q; CONTROLLED STUDY; CYSTINURIA; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HOMOZYGOSITY; HUMAN; INHERITANCE; INTESTINE ABSORPTION; KIDNEY TUBULE ABSORPTION; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NEPHROLITHIASIS; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; URINARY EXCRETION;

EID: 17644436396     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050778     Document Type: Article

References (44)

1. Rosenberg LE, Downing S, Durant JL, Segal S (1966) Cystinuria: biochemical evidence for three genetically distinct diseases. J Clin Invest 45:365-371
2. Byrd DJ, Lind M, Brodehl J (1991) Diagnostic and genetic studies in 43 patients with classic cystinuria. Clin Chem 37: 68-73
3. Rosenberg LE, Durant JL, Holland MJ (1965) Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. N Engl J Med 273:1239-1245
4. Calonge MC, Volpini V, Bisceglia L, Rousaud F, De Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacin M (1995) Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci USA 92:9667-9671
5. Calonge MJ, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapicola B, Di Silverio F, Barcelo P, Estivill X, Zorzano A, Nunes V, Palacin M (1994) Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6:420-425
6. Bisceglia L, Calonge MJ, Totaro A, Feliubadalo L, Melchionda S, Garcia J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacin M (1997) Lokalization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 60: 611-616
7. Wartenfeld R, Colomb E, Katz G, Bale SJ, Goldmann B, Pras M, Kastner DL, Pras E (1997) Molecular analysis of cystinuria in Lybian Jews. Exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 60:617-624
8. Schwartze G (1994) Früherkennung der Cystinurie - Erarbeitung und Anwendung einer Testmethode zur Massenuntersuchung im Kleinkindalter. Thesis, Medizinische Hochschule Hannover, Germany
9. Brodehl J, Gellissen K (1968) Endogenous renal transport of free amino acids in infancy and childhood. Pediatrics 42:395-404
10. Rossi R, Danzebrink S, Linnenbürger K, Hillebrand D, Grüneberg M, Sablitzky V, Deufel TH, Ullrich K, Harms E (1994) Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples. Acta Paediatr 83:1282-1286
11. Purroy J, Bisceglia L, Calonge MJ, Zelante L, Testar X, Zorzano A, Estivill X, Palacin M, Nunes V, Gasparini P (1996) Genomic structure and organisation of the human rBAT gene (SLC3A1). Genomics 37:249-252
12. Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K (1997) The gene for the ataxia-teleangiectasia variant, nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet 60:605-610
13. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
14. Bisceglia L, Calonge MJ, Strogolo LD, Rizzoni G, Sanktis L de, Galucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V (1996) Molecular analysis of the cystinuria disease gene. Identification of four new mutations, one large deletion, and one polymorphism. Hum Genet 98:447-451
15. Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56:519-527
16. Crawhall JC, Purkiss P, Watts RWE, Young EP (1969) The excretion of amino acids by cystinuric patients and their relatives. Ann Hum Gen 33:149-169
17. Morin CL, Thompson MW, Jackson SH, Sass-Kortsak A (1971) Biochemical and genetic studies in cystinuria. Observations on double heterozygotes of genotype I/II. J Clin Invest 50:1961-1975
18. Goodyer PR, Clow C, Reade T, Girardin C (1993) Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J Pediatr 122:568-572
19. Silk DBA, Perrett D, Stephens AD, Clark ML, Scowen EF (1974) Intestinal absorption of cystine and cysteine in normal human subjects and patients with cystinuria. Clin Sci Mol Med 47:393-397
20. Webber WA, Brown JL, Pitts RF (1961) Interactions of amino acids in renal tubular transport. Am J Physiol 200:380-386
21. Schwartzmann L, Blair A, Segal S (1966) A common renal transport system for lysine, ornithine, arginine and cysteine. Biochem Biophys Res Commun 23:220-226
22. Silbernagl S, Deetjen P (1972) The tubular reabsorption of L-cystine and L-cysteine. Pflügers Arch 337:277-284
23. Silbernagl S, Deetjen P (1973) Molecular specificity of the L-arginine reabsorption mechanism. Microperfusion studies in the proximal tubule of rat kidney. Pflügers Arch 340:325-334
24. Foreman JW, Hwang SM, Segal S (1980) Transport interactions of cystine and dibasic amino acids in isolated rat renal tubules. Metabolism 29:53-61
25. McNamara PD, Rea CT, Segal S (1986) Lysine uptake by rat renal brush-border vesicles. Amer J Physiol 251:F734-F742
26. Mc Namara PD, Rea TC, Segal S (1991) Expression of rat jejunal cystine carrier in Xenopus oocytes. J Biol Chem 266: 986-989
27. Coady MJ, Jalal F, Chen X, Lemay G, Berteloot A, Lapointe YJ (1994) Electrogenic amino acid exchange via the rBAT transporter. FEBS Lett 356:174-178
28. Busch AE, Herzer T, Waldegger S, Schmidt F, Palacin M, Biber J, Markovich D, Murer H, Lang F (1994) Opposite directed currents induced by the transport of neutral and dibasic amino acids in Xenopus oocytes expressing the protein rBAT. J Biol Chem 269:25581-25586
29. Palacin M (1994) A new family of proteins (rBAT and 4F2hc) involved in cationic and zwitterionic amino acid transport: a tale of two proteins in search of a transport function. J Exp Biol 196:123-137
30. Wang Y, Tate SS (1995) Oligomeric structure of a renal cystine transporter: implications in cystinuria. FEBS Lett 368: 389-392
31. Harris H, Mittwoch U, Robson EB, Warren FL (1955) Phenotypes and genotypes in cystinuria. Ann Hum Genet 20:57-91
32. Brodehl J (1992) Renal hyperaminoaciduria. In: Edelmann CM, Bernstein J, Meadow SR, Spitzer A, Travis LB (eds) Pediatric kidney disease, vol 2, 2nd edn. Little Brown, Boston, pp 1811-1840
33. Segal S, Thier SO (1995) Cystinuria. In: Scriver CR, Beaqudet AL, Sly WS, Valle D (eds) The molecular and metabolic bases of inherited disease. McGraw-Hill, New York, pp 3581-3601
34. De Sanctis L, Bruno M, Bonetti G, Cosseddu D, Bisceglia L, Ponzone A, Dianzani I (1996) Phenotype characterisation and prevalence of rBAT M467T mutation in Italian cystinuric patients. J Inherit Metab Dis 19:243-245
35. Von Udranszky L, Baumann E (1889) Über das Vorkommen von Diaminen, sogenannten Ptomainen, bei Cystinurie. Z Physiol Chem 13:562
36. Milne MD, Asatoor AM, Edwards KDG, Loughridge LW (1961) The intestinal absorption detect in cystinuria. Gut 2: 323-337
37. Raina A, Jänne J (1975) Physiology of the natural polyamines putrescine, spermidine and spermine. Med Biol 53:121-147
38. Becciolini A, Porciani S, Lanini A, Santoni R, Cionini L (1992) Urinary polyamines in patients with advanced cervical cancer or pelvic recurrence during and after radiotherapy. Acta Oncol 31:327-331
39. Cecco L, Antoniello S, Auletta M, Cerra M, Bonelli P (1992) Pattern and concentration of free and acetylated polyamines in urine of cirrhotic patients. Int J Biol Markers 7:52-58
40. Heffner JE, Ali R, Jeevanandam M (1995) Urinary excretion of polyamines in the adult respiratory distress syndrome. Exp Lung Res 21:275-286
41. Uusitupa M, Poyhonen M, Sarlund H, Laakso M, Kari A, Helenius T, Alakuijala L, Eloranta T (1993) Increased polyamine excretion after starting a very low calorie diet. Scand J Clin Lab Invest 53:811-819
42. Poyonen MJ, Takala JA, Pitkanen O, Kari A, Alhava E, Alakuijala LA, Eloranta TO (1992) Polyamine excretion in depleted patients with gastrointestinal malignancy: effect of perioperative nutrition and tumor removal. J Parenter Enteral Nutr 16:226-231
43. Bremer HJ, Kohne E, Endres W (1971) The excretion of diamines in human urine. II. Cadaverine, putrescine, 1,3-diaminopropane, 2,2′-dithiobis(ethylamine) and spermidine in urine of patients with cystinuria and cystinelysinuria. Clin Chim Acta 32:407-418
44. Kohne E, Bremer HJ (1969) Exkretion der Diamine im menschlichen Urin. Klin Wochenschr 47:214-220