Nephrotic congenital

Congenital heart disease, nephrotic syndrome - Short-term management of hospitalized pediatric patients, other than infants. 

Physiologically, these plasma changes are included here since they reflect impaired numbers or function of B-lymphocytes. Two broad categories are recognizable. First, such immunodeficiency states may exist on congenital basis and often do so with concurrent defects in the T cells (Fig. 1). Alternatively, severe reductions in immunoglobulin levels often develop in the course of chronic lymphocytic leukaemia and myeloma. Not dissimilar impairment of immune competence is found with nephrotic syndrome, protein-losing enteropathy or even malnutrition, and in these instances is equally profound. 

Cerebral infarction has also been reported in association with the use of desmopressin in children (31,32). One of these cases involved a 7-month-old child with congenital nephrotic syndrome who developed a cerebral infarction after surgery (31). One child developed cerebral ischemia after Varicella infection and desmopressin for enuresis (32). 

Nephrin is a basic structural molecule of the slit diaphragm. Mutations of the nephrin gene result in congenital nephrotic syndrome of the Finnish type. The structure and function of the slit diaphragm are described in detail in Section 2.7. 

Congenital nephrotic syndrome of the Finnish type is clinically characterized by heavy proteinuria present already in utero, which leads without nephrectomy and renal replacement therapy to the death of the affected children usually before the second year of life. Electronoptically, the glomerular basement membrane seems to be intact with the fusion of the podocyte foot processes. The chemical composition of the glomerular basement membrane is normal in patients with congenital nephrotic syndrome and all genes of the main proteins of the glomerular... 

The hypothesis that the recurrence of nephrotic syndrome in about 20% of children with congenital nephrotic syndrome after renal transplantation may be caused by the immune reaction of the recipient against normal nephrin (J2), and, similarly, that patients with Alport syndrome may develop antibodies directed against glomerular basement membrane, was not substantiated. Deposition of antinephrin antibodies along the glomerular basement membrane was not demonstrated (LI). 

Besides congenital nephrotic syndrome of the Finnish type (T6), nephrotic syndrome (with histologic appearance of focal segmental glomerulosclerosis) may result from mutations of other podocyte proteins (T7, K4) (Table 1). 

K18. Kestila, M., Lenkkeri, U., Mannikko, M., Lamerdin, J., McCready, P., Putaala, H., Ruotsalainen, V., Morita, T., Nissinen, M., Herva, R., Kashtan, C. E., Peltonen, L., Holmberg, C., Olsen, A., and Tryggvason, K., Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome. Mol. Cell 1,575—582 (1998). 

LI. Laine,J.,Jalanko, H., Holthofer,H.,Krogerus,L., Rapola,J., vonWillebrand,E.,Lautenschlager, I., Salmela, K., and Holmberg, C., Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. Kidney Int. 44, 867-874 (1993). 

L3. Lenkkeri, U., Mannikko, M., and McCready, R, Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am. J. Hum. Genet. 64,51-61 (1999). 

Shih NY, Li J, Karpitskii V, Nguyen A, Dustin ML, Kanagawa O, Miner JH, Shaw AS Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 1999 286 312-5. 

Kestila M et al (1998) Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell l(4) 575-582... 

Decreased immunoglobulin levels are found in conditions where there is deficient protein synthesis, such a malnutrition or malabsorption, or excessive protein loss, such as nephrotic syndrome. There are several rare congenital syndromes in which there is a complete or partial deficiency of one or more classes of immunoglobulins. 

The plasma protein which binds the majority of the circulating thyroxine. It also binds tri-iodothyronine, although less avidly than thyroxine. In normal subjects, it is about 25% saturated. Decreased TBG levels are found in conditions where there is a generalized hypoproteinaemia, such as nephrotic syndrome. Cases of congenital TBG deficiency have also been described. Increased serum TBG levels are found in pregnancy and in patients on oral contraceptives. 

Nephrotic syndrome can also be inherited, following an autosomal recessive or dominant mode in these families. Up to now, the recessive genes responsible for the congenital nephrotic syndrome of the Finnish type (NPHSl on chromosome 19ql2,... 

The involvement of several genes reflects the heterogeneous pathogenesis of the nephrotic syndromes. Pathoanatomical lesions do not indicate a specific genetic entity. Apart from the congenital nephrotic syndrome of the Finnish type, which rarely occurs in non-Finnish populations, genetic testing is not applicable on a routine basis. 

Congenital nephrotic syndrome (Finish type, autosomal recessive)... 

Huttunen NP (1976) Congenital nephrotic syndrome of Finnish type. Study of 75 cases. Arch Dis Child 51 344-348 Jeon A, Cramer BC, Walsh E et al (1999) A spectrum of segmental multicystic renal dysplasia. Pediatr Radiol 29 309-315... 

The nephrotic syndrome (NS) is defined by gross proteinuria, hypalbuminaemia, and oedema. Nephrotic children are prone to thrombembolic complications, infections, and intravascular volume depletion with the risk of acute renal failure. In childhood the most common variety is idiopathic NS, but it can occur in the course of many different glomerular diseases. Mem-branoproliferative GN, membranous glomerulopathy, and lupus nephritis are frequently presenting with NS. The congenital NS of the Finnish type and familial focal and segmental glomerulosclerosis are examples for inherited forms of NS (also see Chaps. 3,21,23). 

Bratton VS, Ellis EN, Seibert JT (1990) Ultrasonographic findings in congenital nephrotic syndrome. Pediatr Nephrol 4 515-516... 

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