Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

  • 83 Accesses

  • 64 Citations


Over a 15-year period we observed seven children (four girls, three boys) who presented within the first months of life with severe renal failure and acidosis, associated with hypertension in five patients and polyuria in four. In addition, one patient had a severe cholestatic liver disease. In two families, a similarly affected sibling had died previously. Four patients were referred with the clinical diagnosis of polycystic kidney disease because of moderate enlargement of kidneys, but renal imaging (intravenous pyelography and ultrasonography) did not confirm this diagnosis. A renal biopsy, performed in all patients, showed similar features characterized by a diffuse chronic tubulo-interstitial nephritis (TIN) and particularly by the presence of microcystic dilatation of proximal tubules and Bowman's space. Liver pathology was normal in two patients, including one with hepatomegaly. However, in the patient with cholestasis there was inflammatory portal fibrosis with mild duct proliferation. Progression of the renal disease was extremely rapid and all patients reached end-stage renal failure (ESRF) before the age of 2 years (11–22 months). Two children had successful renal transplants. Although this chronic TIN shares some features with nephronophthisis, we suggest that it represents a distinct entity both on clinical and morphological grounds. The specific clinical features of this disease are its early onset and rapid progression to ESRF. Pathologically, it differs from nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes and by the presence of cortical microcysts.

This is a preview of subscription content, log in to check access.


  1. 1.

    Broyer M (1983) Frequences et causes de l'insuffisance rénale chez l'enfant. In: Royer P, Habib R, Mathieu H, Broyer M (eds) Néphrologie pédiatrique. Flammarion, Paris, pp 425–430

  2. 2.

    Kleinknecht C (1983) Nephronophtise. In: Royer P, Habib R, Mathieu H, Broyer M (eds) Néphrologie pédiatrique. Flammarion, Paris, pp 48–52

  3. 3.

    Proesmans W, Vandamme B, Desmet V, Eckels R (1976) Fatal tubulo-interstitial nephropathy with chronic cholestatic liver disease. Acta Paediatr Belg 29:231–238

  4. 4.

    Harris HW, Carpenter TO, Shanley P, Rosen S, Levey RH, Harmon WE (1986) Progressive tubulo-interstitial renal disease in infancy with associated hepatic abnormalities. Am J Med 81:169–176

  5. 5.

    Hyams HS, Berman MM, Davis BH (1983) Tubulo-interstitial nephropathy associated with arteriohepatic dysplasia. Gastroenterology 85:430–434

  6. 6.

    Witzleben Cl, Sharp AR (1982) “Nephronophthisis-congenital hepatic fibrosis”. An additional hepatorenal disorder. Hum Pathol 13:728–733

  7. 7.

    Parchoux B, Cottancin G, Houllemare L, Guibaud P, Larbre F (1982) Cecité et insuffisance rénale précoce: à propos d'un cas avec néphropathie tubulo-interstitielle et kystes rénaux. Pédiatrie 37:211–217

  8. 8.

    Gruppuso PA, O'Shea PA, Orson JM, Brem AS (1983) Juvenile nephronophthisis with blindness in a 3-month old infant. Clin Pediatr 22:114–118

  9. 9.

    Sensirivatana R, Watana D, Vatanatumrak B, Benjavongkulchai S (1980) Uremic infant with medullary cystic disease of kidney. J Med Assoc Thaï 63:617–620

  10. 10.

    Bérard E, Boutte P, Tran PM, Mariani R, Gubler MC, Hofman P (1986) Néphropathie tubulo-interstitielle avec microkystes corticaux: à propos d'un cas. Néphrologie 7:212–213

  11. 11.

    Bacri JL (1981) Néphropathie tubulo-interstitiele avec microkystes corticaux: une nouvelle entité. J Urol (Paris) 87:538

  12. 12.

    Gagnadoux MF, Bacri JL, Garel L, Hadchouel MP, Dumas R, Broyer M, Habib R (1983) Néphronophtisis of early onset and rapid progression to end-stage renal failure. Eur J Pediatr 140:178

  13. 13.

    Royer P, Habib R, Mathieu H, Courtecuisse V (1963) Les néphropathies tubulo-interstitielles chroniques idiopathiques de l'enfant. Ann Pediatr (Paris) 39:620–633

  14. 14.

    Waldherr R, Lennert T, Weber HP, Födisch HJ, Schärer K (1982) The nephronophthisis complex. A clinicopathological study in children. Virchows Arch [Pathol Anat] 394:235–254

  15. 15.

    Zollinger HV, Mihatsch MJ, Edefonti A, Gaboardi F, Imbasciati E, Lennert T (1980) Nephronophthisis (medullary cystic disease of the kidney). Helv Paediatr Acta 35:509–530

  16. 16.

    Cohen AH, Hoyer JR (1986) Nephronophthisis. A primary tubular basement membrane defect. Lab Invest 55:564–572

  17. 17.

    Gubler MC, Mounier F, Foidart JM, Naizot C, Gros F, Lacoste M, Beziau A (1987) Ultrastructural and immuno-histochemical study of renal basement membrane in familial juvenile nephronophthisis. In: Hudson BG, Price RG (eds) Renal basement membranes in health and disease. Academic Press, New York, pp 389–398

  18. 18.

    Senior B, Friedmann AI, Braudo JL (1961) Juvenile familial nephropathy with tapetoretinal degeneration. Am J Ophthalmol 52:625

  19. 19.

    Boichis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephronophthisis. Q J Med 42:221–233

  20. 20.

    Proesmans W, Vandamme B, Macken J (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. Clin Nephrol 3:160–164

Note added in proof

  1. 21.

    Bodaghi E, Honarmand MT, Ahmadi M (1987) Infantile nephronophthisis. Int J Pediatr Nephrol 8:207–210

Download references

Author information

Correspondence to R. Habib.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Gagnadoux, M.F., Bacri, J.L., Broyer, M. et al. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?. Pediatr Nephrol 3, 50–55 (1989). https://doi.org/10.1007/BF00859626

Download citation

Key words

  • Infantile chronic renal failure
  • Tubulo-interstitial nephritis
  • microscysts