Familial Juvenile Nephronophthisis—Report of Cases in Two Siblings—

Kobayashi, Akio; Imai, Masashi; Murata, Hiroo; Sato, Hitoshi

doi:10.1111/j.1442-200x.1967.tb02098.x

Cited by 7 publications

(1 citation statement)

References 11 publications

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“…2 Its incidence was reported to vary from 10% to 25% of all cases of renal failure in children. 2,3 However, the actual incidence of this disease in Japan is not clear at present, and only about 30 Japanese cases have been reported (Table 1 [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. To our knowledge, there are two previous reports of adult-onset nephronophthisis in two siblings.…”

Section: Introductionmentioning

confidence: 82%

Nephronophthisis in two siblings

et al. 2005

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We describe here two sisters with nephronophthisis, which was not detected until the development of endstage renal failure. Twenty- and 15-year-old female siblings were admitted to our hospital for further examination of renal dysfunction. No urinalysis abnormalities had been found in yearly health checks in either patient. The serum creatinine level was 7.2 mg/dl in case 1 (the 20-year-old) and 6.4 mg/dl in case 2. Medical history, physical findings, and laboratory tests showed no evidence of urinary tract infection, use of any drugs, arthritis, or skin eruptions. To identify the cause of the renal failure, open left renal biopsies were performed in both patients. Histopathological findings were very similar in the two patients and included marked tubular and interstitial changes (tubular dilatation, focal tubular atrophy, interstitial fibrosis, and infiltration of mononuclear cells). The glomeruli were devoid of mesangial proliferation, mesangial expansion, and adhesion of Bowman's capsule. Based on the clinical and pathological findings, the final diagnosis was nephronophthisis in both patients. It is important to remember that some progressive renal diseases, including nephronophthisis, cannot be detected even by annual urinary screening tests, which are widely performed in Japan.

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Section: Introductionmentioning

confidence: 82%

Nephronophthisis in two siblings

et al. 2005

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The Inheritance of Nephronophthisis

Kleinknecht¹

1990

Inheritance of Kidney and Urinary Tract Diseases

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Hereditary nephronophthisis with a life span of three decades

Collan

Sipponen

Haapanen

et al. 1977

Virchows Arch. A Path. Anat. and Histol.

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Familial nephronophthisis was diagnosed in a son and two daughters of a mother who herself died in uraemia at the age of 29 years. The son died at 33 years, two daughters are alive at 30 and 33 years. Our cases suggest a dominant autosomal type of inheritance because the mother married twice; the affected son was from the first marriage and the affected daughters from the second marriage. There was no known consanguinity between the parents. The pathogenesis of the disease can be explained by a slowly progressive process that leads to complete or partial obstruction of the tubules in the corticomedullary area, and also, therefore, to cystic dilatations. Histological evidence for this is provided by the proliferation of fibroblasts around the collecting ducts and other tubules, prominent thickening of the tubular basement membrane, and fibroblasts and collagen fibrils in or inside the thickened basement membranes. An ultrastructural description of affected kidneys is given.

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Familial Juvenile Nephronophthisis—Report of Cases in Two Siblings—

Cited by 7 publications

References 11 publications

Nephronophthisis in two siblings

Nephronophthisis in two siblings

The Inheritance of Nephronophthisis

Hereditary nephronophthisis with a life span of three decades

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