Dent’s disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance

QJM

Volumn 87, Issue 8, 1994, Pages 473-493

  Wrong, O M ^a   Norden, A G W ^b   Feest, T G ^c  

^a INSTITUTE OF UROLOGY AND NEPHROLOGY   (United Kingdom)

^b CHASE FARM HOSPITAL   (United Kingdom)

^c SOUTHMEAD HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DENTS DISEASE; DISEASE SEVERITY; FAMILIAL DISEASE; FANCONI RENOTUBULAR SYNDROME; FEMALE; HUMAN; HYPERCALCIURIA; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE DISORDER; MALE; METABOLIC BONE DISEASE; PRIORITY JOURNAL; PROTEINURIA; SEX RATIO; X CHROMOSOME;

ADOLESCENT; ADULT; CALCIUM; FANCONI SYNDROME; FEMALE; HUMAN; KIDNEY CALCULI; KIDNEY FAILURE, CHRONIC; KIDNEY TUBULES, PROXIMAL; MALE; MIDDLE AGE; NEPHROCALCINOSIS; PEDIGREE; PHOSPHATES; PROTEINURIA; RICKETS; SEX FACTORS;

EID: 0028038212     PISSN: 14602725     EISSN: 14602393     Source Type: Journal    
DOI: 10.1093/oxfordjournals.qjmed.a068957     Document Type: Article

References (63)

1. Dent CE, Friedman M. Hypercalcuric rickets associated with renal tubular damage. Arch Dis Child 1964; 39:240-9.
2. Wrong OM, Norden AGW, Feest TG. Dent's disease: A familial renal tubular syndrome with hypercalciuria, tubular proteinuria, rickets, nephrocalcinosis and eventual renal failure. Q J Med 1990; 77:1086-7 (Abstract).
3. Norden AGW, Fulcher LM, Lapsley M, Flynn FV. Excretion of fl2-glycoprotein-1 (apolipoprotein H) in renal tubular disease. Clin Chem 1991; 37:74-7.
4. Lapsley M, Sansom PA, Marlow CT, Flynn FV, Norden AGW Beta2-glycoprotein-1 (apolipoprotein H) excretion in chronic renal tubular disorders: Comparison with other protein markers of tubular malfunction, j Clin Path 1991; 44:812-16.
5. Wrong O, Davies HEF. The excretion of acid in renal disease. QJMed 1959; 28:259-313.
6. Goonaratna CdeFW, Wrong OM. Assessment of urine- concentrating ability in man: Effect of fludrocortisone and urea in enhancing response to vasopressin. Clin Sci Mol Med 1975; 48:269-78.
7. Pook MA, Wrong OM, Wooding C, Norden AGW, Feest TG, Thakker RV. Dent's disease, a renal Fancom syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255, and maps to Xpl 1.22. Hum Mol Genet 1993; 2:2129-34.
8. Consensus Conference. Prevention and treatment of kidney stones. J Am Med Assoc 1988; 260:977-81.
9. Smith LH. The medical aspects of urolithiasis: An overview.J Urol 1989; 141:707-10.
10. Tolkoff-Rubin NE, Cosimi AB, Delmonico FL, et al. Diagnosis of tubular injury in renal transplant patients by a urinary assay for a proximal tubular antigen, the adenosine- deaminase-binding protein. Transplantation 1986; 41:593-7.
11. Mutti A, Lucertini S, Valcavi P, Neri TM, Fornari M, Alinovi R, Franchim I. Urinary excretion of brush-border antigen revealed by monoclonal antibody: Early indicator of toxic nephropathy. Lancet, 1985; 2:914-17.
12. Flynn FV, Lapsley M, Sansom PA, Norden AGW. Absence of increased urinary excretion of adenosine-deaminase- binding protein by patients with chronic renal tubular dysfunction. Clin Chim Acta 1991; 200:183-9.
13. Ghazali S, Barratt TM. Urinary excretion of calcium and magnesium in children. Arch Dis Child 1974; 49:97-101.
14. Watson L, Dale NE. The urinary excretion of calcium, phosphorus and creatinine in normal subjects and in patients with skin cancer. Clin Sci 1966; 31:77-86.
15. Fourman P, Royer P. Calcium Metabolism and the Bone. 2nd Edition, Oxford, Blackwell Scientific Publications, 1968.
16. Bulusu L, Hodgkinson A, Nordin BEC, Peacock M. Urinary excretion of calcium and creatinine in relation to age and body weight in normal subjects and patients with renal calculus. Clin Set 1970; 38:601-12.
17. Lemann J. Idiopathic hypercalciuria. In: Coe FL, Brenner BM, Stein JH, eds. Nephrolithiasis. New York, Churchill Livingstone, 1980:86-115.
18. Yendt ER, Conahim M. Prevention of calcium stones with thiazides. Kidney Internat 1978; 13:397-409.
19. Clayton BE, Jenkins P, Round JM. Paediatric Clinical Pathology. Oxford, Blackwell Scientific Publications, 1980.
20. Walton RJ, Bijvoet OLM. Nomogram for derivation of renal threshold phosphate concentration. Lancet 1975; 2:309-10.
21. Wrong O. Nephrocalcinosis. In: Cameron JS, Davison AM, Grunfeld J-P, Kerr D, Ritz E, eds. Oxford Textbook of Clinical Nephrology. Oxford University Press, 1992:1882-905.
22. Hallson PC, Rose GA. A simplified and rapid enzymatic method for determination of urinary oxalate. Clin Chim Acta 1974; 55:29-39.
23. Kasidas GP, Rose GA. A new enzymatic method for the determination of glycollate in urine and plasma. Clin Chim Acta 1979; 96:25-6.
24. Gill HS, Rose GA. Mild metabolic hyperoxaluria and its response to pyridoxine. Urol Internat 1986; 41:393-6.
25. Welshman SG, McGeown MG. Urinary citrate excretion in stoneformers and normal controls. Br J Urol 1976; 48:7-11.
26. de Toni E, Nordio S. The relationship between calcium- phosphorus metabolism, the 'Krebs' cycle and steroid metabolism. Arch Dis Child 1959; 34:371-82.
27. Manning RM, Adami S, Papapoulos SE, Gleed JH, Hendy GN, Rosenblatt M, O'Riordan JLH. A carboxy-terminal specific assay for human parathyroid hormone. Clin Endocrinol 1981 15:439-49.
28. Clemens TL, Hendy GN, Papapoulos SE, Fraher LJ, Care AD, O'Riordan JLH. Measurement of 1, 25-dihydroxycholecalciferol in man by radioimmunoassay. Clin Endocrinol 1979, 11: 225-34.
29. Carey DE, Hopfer SM. Hypophosphatemic rickets with hypercalciuria and microglobulinuria. J Pediat 1987; 111: 860-3.
30. Salti IS, Hemadi K. Hypercalciuric rickets: A rare cause of nephrolithiasis. Nephron 1980; 25:222-6.
31. Royer P, and Balsan S. Effet d'un regime pauvre en chlorure de sodium dans le 'syndrome d'hypercalcurie idiopathique avec namsme et troubles renaux' de I'enfant. Schweiz Med Woch 1966, 96:412-14.
32. Brewer ED. The Fanconi syndrome: Clinical disorders. In: Gonick HC, Buckalew VM, eds. Renal Tubular Disorders New York, Marcel Dekker, 1985:475-544.
33. Brodehl J. Fanconi syndrome. In: Cameron JS, Davison AM, Grunfeld J-P, Kerr D, Ritz E, eds. Oxford Textbook of Clinical Nephrology. Oxford University Press, 1992:723-40.
34. Kruse K, Bartels N. Hypercalciuria in idiopathic Fanconi syndrome. Europ J Pediat 1979; 131:247-54
35. Tolaymat A, Sakarcan A, Neiberger R. Idiopathic Fanconi syndrome in a family. Part I. Clinical Aspects. J Am Soc Nephrol 1992; 2:1310-17.
36. Sliman GA, Winters WD, Avner ED. Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome of Lowe. I Am Soc Nephrol 1993; 4:267 (Abstract).
37. Silver DN, Lewis RA, Nussbaum RL. Mapping the Lowe oculo-cerebro-renal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. Clin Invest 1987; 79:282-5.
38. Charnas LR, Bernadini I, Rader D, Hoeg JM, Gahl WA. Clinical and laboratory findings in the oculocerebralrenal syndrome of Lowe, with special reference to growth and renal function. N Engl j Med 1991; 324:1318-25.
39. Neimann N, Pierson M, Marchal C, Rauber G, Grignon G. Nephropathie familiale glomerulo-tubulaire avec syndrome de deToni-Debre-Fanconi. Arch Frany Ped 1968; 25:43-69.
40. Litin RB, Randall RV, Goldstein NP, Power MH, Diessner GR. Hypercalciuria in hepatolenticular degeneration (Wilson's disease). Am I Med Sci 1959; 238:614-20.
41. Wrong OM, Feest TG, Maclver AG. Immune-related potassium-losing interstitial nephritis; comparison with distal renal tubular acidosis. Q Med 1993; 86:513-34.
42. Flynn FV. Assessment of renal function: Selected developments. Clin Biochem. 1990; 23:49-54.
43. Dedmon RE, Wrong O. The excretion of organic anion in renal tubular acidosis with particular reference to citrate. Clin Set 1962; 22:19-32.
44. Morris RC, Ives HE. Inherited disorders of the renal tubule. In: Brenner BM, Rector FC, eds. The Kidney, 5th edition. Philadelphia, Saunders, 1991:1596-659.
45. Burnett CH, Dent CE, Harper C, Warland BJ. Vitamin-D resistant rickets. Analysis of 24 pedigrees with hereditary and sporadic cases. Am J Med 1964: 36:222-32.
46. Gentil C, Habib R, Le Tan Vinh, Colin J, Gabilan JC, Courtecuisse V, Alagille D, Lelong M. Nanisme avec rachitisme, hypercalciure et proteinurie (deux observations). Sem Hop Paris 1962; 38:784-92.
47. Wright C, Palcoux JB, Cochat P, Malpuech G, David L. Hypophosphatemic rickets with nephrocalcinosis and tubular proteinuria. Dent's syndrome? Pediat Nephrol 1990, 4:C84 (Abstract).
48. Frymoyer PA, Scheinman SJ, Dunham PB, Jones DB, Hueber P, Schroeder ET. X-linked recessive nephrolithiasis with renal failure. N Engl J Med 1991; 325:681 -6.
49. Frymoyer PA, Scheinman SJ, Schroeder ET. X-linked nephrolithiasis with renal failure. N Engl J Med 1992; 326:1029-30 (Letter).
50. Buckalew VM, Purvis ML, Schulman MG, Herndon CN, Rudman D. Hereditary renal tubular acidosis. Report of a 64 member kindred with variable clinical expression including idiopathic hypercalciuria. Medicine (Baltimore) 1974; 53:229-54.
51. Long WS, Seashore MR, Siegel NJ, Bia MS. Idiopathic Fanconi syndrome with progressive renal failure: A case report and discussion. Yale J Biol Med 1990, 63:15-28.
52. Reinhart SC, Norden AGW, Lapsley M, Thakker RJ, Frymoyer PA, Scheinman SJ. Phenotypes of males and carrier females in X-linked recessive nephrolithiasis (XRN). J Am Soc Nephrol 1993; 4:265 (Abstract).
53. Wrong O, Norden AGW, Feest TG. X-linked recessive nephrolithiasis with renal failure. N Engl J Med 1992; 326:1029 (Letter).
54. Lumb GA, Mawer EB, Stanbury SW. The apparent Vitamin D resistance of chronic renal failure. A study of the physiology of vitamin D in man. Am J Med 1971; 50:421-41.
55. McKenna MJ. Differences in vitamin D status between countries in young adults and the elderly. Am j Med 1992; 93:69-77.
56. Scheinman SI, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 1993; 91:2351-7.
57. Tieder M, Arie R, Modai D, Samuel R, Weissgarten J, Liberman UA. Elevated serum 1, 25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome. New Engl J Med 1988; 319:845-9.
58. Proesmans WC, Fabry G, Marchal GJ, Gillis PL, Bouillon R. Autosomal dominant hypophosphataemia with elevated serum 1, 25 dihydroxyvitamin D and hypercalciuria. Pediat Nephrol 1987; 1:479-84.
59. Coe FL, Parks JH, Moore ES. Familial idiopathic hypercalciuria. N Engl I Med 1979; 300: 337-40.
60. Buyan N, Saatfi O, Bakkaloglu A, Besbas N. Familial idiopathic hypercalciuria. In: Bartsocas CS, ed. Genetics of Kidney Disorders, New York, Alan R. Liss, 1989:145-8.
61. Harangi F, Mehes K. Family investigations in idiopathic hypercalciuria. Eur J Pediat 1993; 152:64-8.
62. Geary DF, Dillon MJ, Gammon K, Barratt TM. Tubular proteinuria in children without other defects of renal function. Nephron 1985; 40:329-31.
63. Susuki Y, Okada T, Higuchi A, Mase D, Kobayashi O. Asymptomatic low molecular weight proteinuria: A report on 5 cases. Clin Nephrol 1985; 23:249-54.