Congenital nephrotic syndrome

Hallman, N; Hjelt, L

doi:10.1016/s0022-3476(59)80083-4

Cited by 61 publications

(27 citation statements)

References 7 publications

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“…Comparisons between continuous variables were based on the Mann-Whitney U test or Kruskal-Wallis test, as indicated. For categorical variables, we tested for differences in proportions by 2 or Fisher exact test, as indicated. All tests were two-tailed.…”

Section: Discussionmentioning

confidence: 99%

Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

Machuca¹,

Benoît²,

Névo³

et al. 2010

Journal of the American Society of Nephrology

136

109

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Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype-phenotype correlations are not well understood in non-Finnish patients. We evaluated the clinical presentation, kidney histology, and disease progression in non-Finnish CNS cases by mutational screening in 107 families (117 cases) by sequencing the entire coding regions of NPHS1, NPHS2, PLCE1, WT1, LAMB2, PDSS2, COQ2, and NEPH1. We found that CNS describes a heterogeneous group of disorders in non-Finnish populations. We identified nephrin and podocin mutations in most families and only rarely found mutations in genes implicated in other hereditary forms of NS. In approximately 20% of cases, we could not identify the underlying genetic cause. Consistent with the major role of nephrin at the slit diaphragm, NPHS1 mutations associated with an earlier onset of disease and worse renal outcomes than NPHS2 mutations. Milder cases resulting from mutant NPHS1 had either two mutations in the cytoplasmic tail or two missense mutations in the extracellular domain, including at least one that preserved structure and function. In addition, we extend the spectrum of known NPHS1 mutations by describing long NPHS1 deletions. In summary, these data demonstrate that CNS is not a distinct clinical entity in non-Finnish populations but rather a clinically and genetically heterogeneous group of disorders.

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Section: Discussionmentioning

confidence: 99%

Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

Machuca¹,

Benoît²,

Névo³

et al. 2010

Journal of the American Society of Nephrology

136

109

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“…Infants are premature with a low birth weight for age and a large placenta. Severe NS is present from birth and resistant to steroids or immunosuppressive drugs (6,7). Before the development of active treatment, patients usually died within the first 6 mo of life of various complications (7).…”

Section: Congenital Ns Of the Finnish Typementioning

confidence: 99%

Podocyte Differentiation and Hereditary Proteinuria/Nephrotic Syndromes

Gubler

2003

Journal of the American Society of Nephrology

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Abstract. The study of familial nephrotic syndromes (NS) and the analysis of murine models of glomerular diseases resulted in major progresses in the knowledge of podocyte physiology and pathology. Numerous proteins participating in the composition of the slit diaphragm region have been identified. The importance of several of them (nephrin, podocin, CD2AP, and Neph1) in the maintenance of the glomerular filtration barrier has been demonstrated by the occurrence of massive proteinuria when they are defective. The role of the cytoskeleton has been revealed by the development of proteinuria/NS in patients with ACTN4 mutation and the occurrence of early and severe NS in ␣-actinin-4 -deficient mice. Given the genetic heterogeneity of familial NS and the many other genes to be identified, further insights in the molecular basis of the role of the podocyte in the maintenance of the glomerular filtration barrier may be expected in the near future.

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“…Congenital nephrotic syndrome of the Finnish type [16] is a rare disease entity out- Fig.3. Electron micrograph.…”

Section: Congenital Nephrotic Syndrome Of the Finnish Typementioning

confidence: 99%

Glomerular Basement Membrane Changes in Hereditary Glomerular Diseases

Gübler¹,

Levy²,

Naizot³

et al. 1980

Kidney Blood Press Res

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Ultrastructural glomerular basement membrane changes are present in most hereditary glomerular diseases: thick and thin basement membrane with splitting of the lamina densa in Alport’s syndrome, thin basement membrane in familial benign essential hematuria, and thick basement membrane with the presence of collagen-like fibrils in the nail-patella syndrome. They are useful markers for diagnosis. Moreover, their knowledge has set the problem of the primary biochemical defect in basement membrane metabolism accounting for morphological abnormalities and clinical disturbances. Further biochemical and immunochemical investigations are still required for a better understanding of hereditary glomerular diseases.

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Congenital nephrotic syndrome

Cited by 61 publications

References 7 publications

Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

Podocyte Differentiation and Hereditary Proteinuria/Nephrotic Syndromes

Glomerular Basement Membrane Changes in Hereditary Glomerular Diseases

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