Several renal diseases are believed to have an immune pathogenesis; the evidence includes depression of serum complement and the demonstration of the glomerular deposition of complement components and immunoglobulin by immunofluorescence. However, the congenital nephrotic syndrome and the nephritis associated with HenochSchonlein purpura (HSP) are two diseases in which the role of immunopathoge...

BACKGROUND Plastic bronchitis is a rare but life-threatening disorder and is usually associated with congenital heart disease or pulmonary disease. CASE CHARACTERISTICS A 5-year-old boy with minimal change nephrotic syndrome who developed a relapse along with cough, fever and dyspnea. OBSERVATION Chest X-ray showed atelectasis of right upper lobe of lung, and nasal swab was positive for inf...

Studies of Mendelian forms of focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome have provided new insights into the mechanism of these diseases. Congenital nephrotic syndrome and familial forms of FSGS form a spectrum of podocyte diseases of varying severity and age of onset. Mutations in both nephrin gene (NPHS1) alleles lead to congenital nephrosis, podocyte foot process efacem...

Several renal diseases are believed to have an immune pathogenesis; the evidence includes depression of serum complement and the demonstration of the glomerular deposition of complement components and immunoglobulin by immunofluorescence. However, the congenital nephrotic syndrome and the nephritis associated with HenochSchonlein purpura (HSP) are two diseases in which the role of immunopathoge...

Congenital nephrotic syndrome of the Finnish type is a rare autosomal recessive disease with a high infant mortality without aggressive treatment. The biochemical basis of the disease is not understood fully but the disease locus has been mapped recently to chromosome 19q12-q13.1 in Finnish families. This paper describes the clinical features and outcome of 20 patients in Ireland with congenita...

Laminin β2 is a component of laminin-521, which is an important constituent of the glomerular basement membrane (GBM). Null mutations in laminin β2 (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. In contrast, patients with LAMB2 missense mutations, such as R246Q, can have less severe extrarenal defects but still exhibit congenital nephr...

Pierson syndrome is a congenital nephrotic syndrome with ocular and neurological defects caused by mutations in LAMB2, the gene encoding the basement membrane protein laminin β2 (Lamβ2). It is the kidney glomerular basement membrane (GBM) that is defective in Pierson syndrome, as Lamβ2 is a component of laminin-521 (LM-521; α5β2γ1), the major laminin in the mature GBM. In both Pierson syndrome ...