Renal Pathology of Fetuses with Congenital Nephrotic Syndrome of the Finnish Type

Autio–Harmainen, Helena; Rapola, Juhani

doi:10.1159/000182343

Cited by 24 publications

(7 citation statements)

References 11 publications

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“…[2] and Vernier and Birch-Andersen [11] for infants from birth to 3 years of age. The values are also in the same range with the second trimester CNF fetuses [1], It is claimed that in mature fetal glomeruli the thickness of the GBM is similar to that in infants [11], In CNF fetuses the lamina densa was measured to be thinner than those of controls using the same method as in this study [1], The present study shows that the lamina densa is not narrowed only in fetuses but also in infants with CNF. This result gives further support to the suggestion that the basic defect in CNF could be a faulty synthesis of the lamina densa.…”

Section: Discussionsupporting

confidence: 77%

The Thickness of the Glomerular Basement Membrane in Congenital Nephrotic Syndrome of the Finnish Type

Autio–Harmainen¹,

Rapola²

1983

Nephron

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Electron microscopic examination was carried out on 10 glomeruli from 4 infants with congenital nephrotic syndrome of the Finnish type (CNF) and 5 glomeruli from 1 control. The thickness of the peripheral glomerular basement membrane (GBM) and lamina densa were measured. The width of the GBM was thinner in CNF than in the control but still within normal limits for the age and the width of the lamina densa was thinner in CNF compared to the control. This study supports earlier findings that the basic defect in CNF could be a faulty synthesis of the lamina densa.

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Section: Discussionsupporting

confidence: 77%

The Thickness of the Glomerular Basement Membrane in Congenital Nephrotic Syndrome of the Finnish Type

Autio–Harmainen¹,

Rapola²

1983

Nephron

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“…The light microscopy of the NPHS1 kidneys lacking nephrin showed tubular dilatation but no major changes in glomeruli, as reported previously. 22 In electron microscopy, the junctions between developing podocytes of the late capillary loop stage glomeruli appeared normal (Fig- ure 6). However, junctions with ladder-like structures were missing in capillary stage glomeruli of both NPHS1 kidneys.…”

Section: Glomerulogenesis In Nphs1 Kidneysmentioning

confidence: 96%

Role of Nephrin in Cell Junction Formation in Human Nephrogenesis

Ruotsalainen

Patrakka

Tissari

et al. 2000

The American Journal of Pathology

104

102

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Nephrin is a cell adhesion protein located at the slit diaphragm area of glomerular podocytes. Mutations in nephrin-coding gene (NPHS1) cause congenital nephrotic syndrome (NPHS1). We studied the developmental expression of nephrin, ZO-1 and P-cadherin in normal fetal kidneys and in NPHS1 kidneys. We used in situ hybridization and immunohistochemistry at light and electron microscopic levels. Nephrin and zonula occludens-1 (ZO-1) were first expressed in late S-shaped bodies. During capillary loop stage, nephrin and ZO-1 localized at the basal margin and in the cell-cell adhesion sites between developing podocytes, especially in junctions with ladder-like structures. In mature glomeruli, nephrin and ZO-1 concentrated at the slit diaphragm area. P-cadherin was first detected in ureteric buds, tubules, and vesicle stage glomeruli. Later, P-cadherin was seen at the basal margin of developing podocytes. Fetal NPHS1 kidneys with Fin-major/Fin-major genotype did not express nephrin, whereas the expression of ZO-1 and P-cadherin was comparable to that of control kidneys. Although early junctional complexes proved structurally normal, junctions with ladder-like structures and slit diaphragms were completely missing. The results indicate that nephrin is dispensable for early development of podocyte junctional complexes. However, nephrin appears to be essential for formation of junctions with ladder-like structures and slit diaphragms.

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“…Histology shows a wide variability but fibrotic lesions, focal mesangial cell hyperplasia, tubular atrophy, and dilatation of glomerular capillaries are common features [10,11]. The most frequent cause of CNS is CNS of the Finnish type (CNF), which is an autosomal recessive disorder with a higher incidence in Finland (1:10,000 births) [12] than in other countries [13].…”

Section: Introductionmentioning

confidence: 99%

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

et al. 2004

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Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. In 26% of cases it is caused by recessive mutations in NPHS2 (podocin). Congenital nephrotic syndrome (CNS) is caused by mutations in NPHS1 (nephrin) or NPHS2. In three families mutations in NPHS1 and NPHS2 had been reported to occur together, and these tri-allelic mutations were implicated in genotype/phenotype correlations. To further test the hypothesis of tri-allelism, we examined a group of 62 unrelated patients for NPHS1 mutations, who were previously shown to have NPHS2 mutations; 15 of 62 patients had CNS. In addition, 12 CNS patients without NPHS2 mutation were examined for NPHS1 mutations. Mutational analysis yielded three different groups. (1) In 48 patients with two recessive NPHS2 mutations (11 with CNS), no NPHS1 mutation was detected, except for 1 patient, who had one NPHS1 mutation only. This patient was indistinguishable clinically and did not have CNS. (2) In 14 patients with one NPHS2 mutation only (4 with CNS), we detected two additional recessive NPHS1 mutations in the 4 patients with CNS. They all carried the R229Q variant of NPHS2. The CNS phenotype may be sufficiently explained by the presence of two NPHS1 mutations. (3) In 12 patients without NPHS2 mutation (all with CNS), we detected two recessive NPHS1 mutations in 11 patients, explaining their CNS phenotype. We report ten novel mutations in the nephrin gene. Our data do not suggest any genotype/phenotype correlation in the 5 patients with mutations in both the NPHS1 and the NPHS2 genes.

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Renal Pathology of Fetuses with Congenital Nephrotic Syndrome of the Finnish Type

Cited by 24 publications

References 11 publications

The Thickness of the Glomerular Basement Membrane in Congenital Nephrotic Syndrome of the Finnish Type

The Thickness of the Glomerular Basement Membrane in Congenital Nephrotic Syndrome of the Finnish Type

Role of Nephrin in Cell Junction Formation in Human Nephrogenesis

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

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