Familial juvenile nephronophthisis (FJN) is a frequent cause of chronic renal failure in children and adolescents. Typically it presents after 6 years of age through adolescence, but may become apparent in early childhood. The clinical presentation is insidious, and the early symptoms of polyuria and polydipsia are often overlooked in the presence of a relatively normal urinalysis and in the absence of proteinuria, azotemia, and hypertension. Thus most patients are not diagnosed until after the onset of renal failure. These children are excellent candidates for properly selected transplantation.
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References
1.
Fanconi G., Hanhart E., Von Albertini A., et al. Die familiäre juvenile Nephronophthise (die idiopatische parenchymatose Schrumpfniere). Helv paediat Acta1951;6:1-49.
Steele BT, Lirenman DS, Beattie CWNephronophthisis. Am J Med1980;68:531-8.
4.
Waldherr R., Lennert T., Weber HP, et al. The nephronophthisis complex: a clinicopathologic study in children . Virchows Arch Abt A. Pathol Anat1982;394:235-54.
5.
Steele BT, Lirenman DSOrganizing a successful summer camp for children with chronic renal failure . Can Med Assoc J1979;121:356-8.
6.
Helin I., Winberg J.Chronic renal failure in Swedish children. Acta Paediatr Scan1980;69:607-11.
7.
Gardner KD, Evan P.Nephronophthisis and medullary cystic disease. In: Hamburger J, Crosnier J, Grünfeld J-P, eds. Nephrology. New York: John Wiley & Sons1979, pp 922-35.
8.
Bernstein J., Gardner KD Jr. Familial juvenile nephronophthisis: medullary cystic disease. In: Edelmann CM Jr, ed. Pediatric Kidney Disease. Boston: Little, Brown and Company, 1979, pp 580-6.
9.
McKusick VAMendelian inheritance in man. Catalogs of Autosomal Dominant, Autosmal Recessive, and X-linked Phenotypes. 6th ed. Baltimore: The Johns Hopkins University Press1983, p 859.
10.
Boichis H., Passwell J., David R., et al. Congenital hepatic fibrosis and nephronophthisis: a family study . Q J Med1973;42: 221-33.
Thorn GW, Koepf GF, Clinton M.Renal failure simulating adrenocortical insufficiency. N Engl J Med1944 ;231:76-85.
13.
Rayfield EJ , McDonald FDRed and blond hair in renal medullary cystic disease. Arch Intern Med1972;130:72-5.
14.
Von Sydow G. , Ranström S.Familial juvenile nephronophthisis. Acta Paediatr1962;51:561-74.
15.
Van Collenburg Jjm, Thompson MW, Huber JLClinical, pathological and genetic aspects of a form of cystic disease of the renal medulla: familial juvenile nephronophthisis . Clin Nephrol1978;9:55-62.
16.
Habib R.Nephronophthisis and medullary cystic disease. In: Strauss MB, ed. Pediatric nephrology Vol. 1. New York: Stratton Corp1974, p 393.
17.
Garel LA, Habib R., Pariente D., et al. Juvenile nephronophthisis: sonographic appearance in children with severe uremia. Radiology1984;151:93-5.
18.
Zollinger HU , Mihatsch MJ, Edefonti A., et al. Nephronophthisis (medullary cystic disease of the kidney): a study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediat Acta1980;35: 509-30.
19.
Gibson Aam, Arneil GCNephronophthisis: report of 8 cases in Britain. Arch Dis Child1972;47:84-9.
20.
Donaldson Mdc , Warner AA, Trompeter RS, et al. Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders. Arch Dis Child1985;60:426-34.
21.
Dieterich E. , Straub E.Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia. Helv Paediat Acta1980;35:261-7.
22.
Fontaine J-L. , Boulesteix J., Saraux H., et al. Nephropathie tubulo-interstitielle de l'enfant avec dégénérescence tapétorétinienne (syndrome de Senior): à propos d'une observation. Arch Fr Pédiatr1970;27:459-70.
23.
Debakan A.Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys, and maldevelopment of the brain. Am J Ophthalmol1969;68:1029-37.
24.
Pagon RA, Haas JE, Bunt AH, et al. Hepatic involvement in the Bardet-Biedl syndrome. Am J Med Genet1982;13: 373-81.
25.
Proesmans W. , Van Damme B., Macken J.Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. Clin Nephrol1975;3:160-4.
26.
Delaney V., Mullaney J., Bourke E.Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins. Q J Med1978;47:281-90.
27.
Mainzer F., Saldino RM, Ozonoff MB, Minagi H.Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia, and skeletal abnormalities. Am J Med1970;49:556-62.
28.
Roizenblatt J., Cunha Lap.Leber's congenital amaurosis with associated nephronophthisis. J Pediatr Ophthal Strabismus1980;17:154-8.
29.
Popović-Rolović M., Čalic-Perišič N., Bunjevački G., et al. Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia and skeletal abnormalities. Arch Dis Child1976;51:801-3.
30.
Ellis DS, Heckenlively JR, Martin CL, et al. Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Am J Ophthalmol1984;97:233-9.
31.
Debakan A.Familial occurrence of congenital retinal blindness and developmental renal lesions. J Genet Hum1969;17: 289-96.
32.
Strauss MB, Sommers SCMedullary cystic disease and familial juvenile nephronophthisis: clinical and pathological identity. N Engl J Med1967 ;277:863-4.
33.
Sherman FE, Studnicki FM, Fetterman GHRenal lesions of familial juvenile nephronophthisis examined by microdissection . Am J Clin Pathol1971;55:391-400.
34.
Mongeau JG, Worthen HGNephronophthisis and medullary cystic disease. Am J Med1967;43:345-55.
35.
Mena E., Bookstein JJ, McDonald FD, et al. Angiographic findings in renal medullary cystic disease. Radiology1974;110: 277-81.
36.
Bernstein J.Polycystic disease. In: Edelmann CM Jr, ed. Pediatric kidney disease. Boston: Little, Brown and Company, 1978, pp 557-70.
37.
Chantler C.Newborn disorders. In: Lieberman E, ed. Clinical pediatric nephrology. Philadelphia : JB Lippincott, 1976, pp 310-39.
38.
Lieberman E. , Salinas-Madrigal L., Gwinn JL, et al. Infantile polycystic disease of the kidneys and liver: clinical, pathological, and radiological correlations and comparison with congenital hepatic fibrosis. Medicine1971;50:277-318.
39.
Salusky IB, Coburn JW, Paunier L., et al. Role of aluminum hydroxide in raising serum aluminum levels in children undergoing continuous ambulatory peritoneal dialysis. J Pediatr1984;105:717-20.
40.
Sedman AB, Wilkening GN, Warady BA, et al. Encephalopathy in childhood secondary to aluminum toxicity. J Pediatr1984;105:836-8.
41.
Polinsky MS , Gruskin ABAluminum toxicity in children with chronic renal failure. J Pediatr1984;105:758-61.
42.
Cournot-Witmer G., Gagnadoux MF, Lebon P., et al. Ostéomalacie par intoxication à I-aluminium au cours de l'hémodialyse chronique. Arch Fr Pédiatr1982;39(Suppl 2): 749-54.
43.
Rosman JB, ter Wee PM, Meijer S., et al. Prospective randomised trial of early dietary protein restriction in chronic renal failure. Lancet1984;2:1291-6.
44.
Evans RW, Manninen DL, Garrison LP Jr, et al. The quality of life of patients with end-stage renal disease . N Engl J Med1985;312:553-9.
