The nephronophthisis complex: clinical and genetic aspects View Full Text


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Article Info

DATE

1992-09

AUTHORS

F. Hildebrandt, R. Waldherr, R. Kutt, M. Brandis

ABSTRACT

Familial juvenile nephronophthisis (NPH) and medullary cystic disease (MCD) are hereditary forms of early-onset chronic renal failure caused by the bilateral formation of cysts at the corticomedullary junction of the kidney. Polyuria, polydipsia, anemia, and growth retardation precede end-stage renal failure. The absence of edema and hypertension frequently leads to a delay in the diagnosis and commencement of therapy. The condition is a major cause of end-stage renal disease (ESRD) in children, accounting for 10%–25% of these patients. About 300 cases of NPH or MCD have been described. Although they are almost indistinguishable clinically and pathologically, the two conditions are separated by a characteristic age of onset (11.5 years in NPH vs. 28.5 years in MCD) and by the mode of inheritance (autosomal recessive in NPH vs. autosomal dominant in MCD). An association of NPH with retinitis pigmentosa is known as the Senior-Løken syndrome (SLS). Hepatic fibrosis, skeletal defects, and central nervous system abnormalities have been described in association with NPH but are typically absent in MCD. Since the pathology of NPH and MCD is similar, the term “nephronophthisis complex” has been introduced to summarize the related diseases. At present, there are no means of identifying heterozygotes, conducting prenatal diagnosis, or screening children in affected families. The histologic changes of NPH are characteristic but not specific for the disease. Cysts of 1–15 mm in diameter, located primarily at the corticomedullary junction, are seen in 70% of the patients. Light microscopy reveals a chronic sclerosing tubulo-interstitial nephropathy. Characteristic changes on electron microscopy are thickening, splitting, attenuation, and granular disintegration of the tubular basement membrane with abrupt transitions between the alterations. Since the pathophysiology of the disease complex is obscure, a reverse genetics approach is currently being used to localize a gene or several genes for the NPH/MCD complex. More... »

PAGES

802-808

References to SciGraph publications

  • 1983-01. Polymorphism of genes involved in anti-tubular basement membrane disease in rats in IMMUNOGENETICS
  • 1982-01. The nephronophthisis complex in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • 1989-03. Rate of deterioration of renal function in juvenile nephronophthisis in PEDIATRIC NEPHROLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/bf00180751

    DOI

    http://dx.doi.org/10.1007/bf00180751

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1010133693

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/1450635


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