Genetic Aspects of Renal Disease

Goodheart, J.F. : Acute and chronic Bright's disease. In Keating, J. M. Ed., Cyclopedia of Diseases of Children, Vol. 3. Philadelphia, J. B. Lippincott Co., 1890, p. 532-58.

Alport, A.C. : Hereditary familial congenital heynorrhage nephritis. Br. Med. J. 1: 504, 1927.

Goldbloom, R.B. , et al.,: Hereditary renal disease associated with nerve deafness and ocular lesions. Pediatrics 20: 241, 1957.

Arnott, E.J. , Crawfurd, M. , and Toghill, P.J. : Anterior lenticonus and Alport's Syndrome. Br. J. Ophthamol. 50: 390, 1966.

Martin, O.S.M. , and Tyler, H.R. : Hereditary interstitial nephritis associated with polyneuropathy. Neurology 11: 999, 1961.

Krickstein, H.I. , Gloor, F.J. , Balogh, K. : Renal pathology in hereditary nephritis with nerve deafness. Arch. Pathol. 82: 506, 1966.

Royer, P. , et al.: Pediatric Nephrology. Philadelphia, W. B. Saunders Co., 1974, p. 41.

Perkoff, G.T. : Hereditary aspects of renal disease. N. Engl. J. Med. 277: 79, 1967.

McKusick, V. : Mendelian Inheritance in Man, 4th ed. Baltimore, The Johns Hopkins Press, p. 16. 10. Dockhorn, R.J. : Hereditary nephropathy without deafness. Am. J. Dis. Child. 114: 135, 1967.

Teisberg, P. , Grottum, K.A. , Myrhe, E. , and Flat-mark, A. : In vivo activation of complement in hereditary nephropathy. Lancet II: 356, 1973.

Fanconi, G. , et al.: Helv. Paediat. Acta 6: 1, 1951. Cited in Perkoff, G.T. : Renal disease in Good-man, R. M.: Genetic Disorders of Man. Boston, Little Brown & Co., 1970, pp. 449-50.

Senior, B. : Familial renal-retinal dystrophy. Am. J. Dis. Child. 125: 442, 1973.

Norio, R. : Heredity in the congenital nephrotic syndrome. Ann. Paediatr. Fenn 12(Supp 27): 1, 1966.

Kaye, C. , and Lewy, P.R. : Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease. J. Pediatr. 85: 807, 1974.

Strauss, M.B. : Clinical and pathological aspects of cystic disease of renal medulla. Ann. Intern. Med. 57: 373, 1962.

Goldman, S.H. , et al.: Hereditary occurrence of cystic-diseased renal medulla. N. Engl. J. Med. 274: 984, 1966 .

Harris, H. , and Robson, E.B. : Cystinuria. Am. J. Med. 22: 774, 1957.

Jepson, J.B. : Hartnup's disease. In Stanbury, J. B. , et al. Eds.: The Metabolic Basis of Inherited Disease, 3rd ed. New York, McGraw-Hill Co., pp. 1486-1504.

Graham, J.B. , McFalls, V.W. , and Winters, R.B. : Familial hypophosphatemia with Vitamin D resistent rickets. Am. J. Hum. Genet. 11: 311, 1959.

Winters, R.W. , et al.: A genetic study of familial hypophosphatemia . Medicine 37: 971, 1958.

Seldin, D.W. , and Wilson, J.D. : Renal tubular acidosis. In Stanbury, J. B. , et al., The Metabolic Basis of Inherited Disease, 3rd ed. New York, McGraw-Hill Co., pp. 1548-67.

Bartter, F.C. , Pronove, P. , Gill, J.R. , Jr., and McCardle , R.C. : Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis Am. J. Med. 33: 811, 1962.

Bryan, G.T. , McCardle, R.C. , and Bartter, F.C. : Hyperaldosteronism hyperplasia of the juxaglomerular complex, normal blood pressure and dwarfism, Pediatrics 37: 43, 1966.

Camacho, A.M. , and Blizzard, R.M. : Congenital hypokalemia of renal origin due to an inherited metabolic defect. Am. J. Dis. Child 100: 713, 1960.

Albright, F. , et al.: Idiopathic hypercalciuria. J. Clin. Endoc. 131: 860, 1953.

Berlin, L.J. , and Clayton, B.E. : Idiopathic hypercalciuria in a child. Arch. Dis. Child. 39: 409, 1964.

Schaen, E.J. : Renal diabetes insipidus. Pediatrics 26: 808, 1960.

Reuss, A.L. , and Rosenthal, I.M. : Intelligence in nephrogenic diabetes insipidus Am. J. Dis. Child. 105: 358, 1963.

Silverstein, E. , and Tobian, L. : Pitressin-resistant diabetes insipidus with massive hydronephrosis. Am. J. Med. 30: 819, 1961.

Lowe, C.U. , et al.: Organic aciduria decreased renal ammonia production, hydrophthalmus and mental retardation. Am. J. Dis. Child. 83: 164, 1952.

Brady, R.O. , et al.: Replacement therapy for inherited enzyme deficiency. Use of purified ceramide trihexosidase in Fabry's disease. N. Engl, J. Med. 289: 9, 1973.

Heller, H. , et al.: Amyloidosis in familial Mediterranean fever. Arch Intern. Med. 107: 539, 1961.

Lesch, M. , and Nyhan, W.H. : A familial disorder of uric metabolism and central nervous disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36: 56, 1964.

Potts, J.T. : Pseudohypoparathyroidism. In Stanbury, J. B. , et al. eds. The Metabolic Basis of Inherited Disease , 3rd ed. New York, McGraw-Hill Co., pp. 1305-19.

Reynolds, E.S. , Tannen, R.L. , and Tyler, H.R. : The renal lesion in Wilson's Disease. Am. J. Med. 40: 518, 1966.

Efron, M.L. : Familial hyperprolinemia: report of a second case, associated with renal malformations, hereditary hematuria with demonstrations of enzyme defect. N. Engl. J. Med. 272: 1243, 1965 .

Williams, H.E. , and Smith, L.H. , Jr.: Disorders of oxalate metabolism. Am. J. Med. 45: 715, 1968.

Vitale, L. , Opitz, J.M. , and Shahidi, N.T. : Congenital and familial iron overload N. Engl. J. Med. 280: 642, 1969.

Gomez, M. : Personal communication, 1975.

Holmes, L.B. , et al.: Mental Retardation. New York, Macmillian Company, 1972, p. 292.

Ibid., pp. 145-93.