Congenital diseases/disorders

There have been several reports of seizures in association with hyponatremia after intravenous administration of desmopressin to cover surgery in young children with congenital bleeding disorders such as mild hemophilia A or von Willebrand s disease (58-60). Hyponatremia and convulsions have occurred in children without congenital bleeding disorders who received desmopressin for urine concentration tests or to treat nocturnal enuresis (54,61,62). 

Indications for the transplantation of hepatocytes predominantly involve those liver diseases in which functional failures occur in the liver cells (not in the bile ducts). Permanent transplantation would be indicated, for example, in order to eliminate congenital metabolic disorders of the liver cells. In this case, hepatocytes from the patient could be used, with subsequent elimination of the defect by gene technology, as well as hepatocytes from healthy donors. A few years ago, a therapeutic effect lasting for over one year was achieved for the first time in a girl suffering from the Crigler-Najjar syndrome (I. X Fox et af, 1998). Human hepatocytes are most definitely more suitable than animal liver cells. The latter may well meet the requirements for a provisional substitute, but not for permanent transplantation. 

Causes of fatty liver are manifold, and combinations of causes quite common. Acquired causes are by far the most frequent, but there are also rare causes, e.g. coeliac disease (9, 25), parenteral nutrition. (28, 29) Congenital metabolic disorders can also lead to the development of a fatty liver, as in the case of a rare thesaurismosis. It is of considerable therapeutic and prognostic importance to differentiate between an alcoholic fatty liver (AFL) and alcoholic steatohepatitis (ASH) (s. pp 529, 531) as well as between non-alcoholic fatty liver (NAFLD) and non-alcoholic steatohepatitis (NASH). (2, 20, 24, 36) (s. tabs. 31.5-31.7)... 

Hepatic disease hypersensitivity to valproate pregnancy (FDA category D) children < 2 years (especially those on multiple antiwnvulsant therapy, those with congenital metabolic disorders, those with severe seizure disorders, and those with organic brain disease) pancreatitis. 

The most common congenital bleeding disorder, von WiUebrand disease has a prevalence of 1 % to 2%. It refers to a family of disorders caused by a quantitative and/or qualitative defect of von WiUebrand factor, a glycoprotein that plays a role in both platelet aggregation and coagulation. Unlike hemophilia, von WiUebrand disease has an autosomal inheritance pattern, resulting in an equal frequency of disease in males and females. 

Apart from this, congenital diseases are known which result from defects in the matrix of connective tissue others, such as cystinuria in which cystine and the basic amino adds are continuously excreted in the urine, seem to be caused by disorders of active transport, presumably as a result of alterations in the carrier proteins. 

Primary immunodeficiencies are uncommon, and may occur in 1 in 10,000 individuals (6). Many primary immunodeficiencies are hereditary and congenital, and first appear in infants and children. Primary immunodeficiencies are classified into four main groups (7) relating to the lymphocytes (B-ceUs, T-ceUs, or both), phagocytes, or the complement cascade (8). Primary deficiency diseases result from B-ceU defects in 50% of cases, from T-ceU defects in ca 10%, and from combined B- and T-ceU defects in ca 20%. Phagocytic disorders account for 18% and complement defects occur in 2% of all cases. 

Type I Crigler-Najjar syndrome is a rare autosomal recessive disorder. It is characterized by severe congenital jaundice (serum bilirubin usually exceeds 20 mg/dL) due to mutations in the gene encoding bilirubin-UGT activity in hepatic tissues. The disease is often fatal within the first 15 months of life. Children with this condition have been treated with phototherapy, resulting in some reduction in plasma bilirubin levels. Phenobarbital has no effect on the formation of bilirubin glucuronides in patients with type I Crigler-Najjar syndrome. A liver transplant may be curative. 

Congenital, familial, and metabolic disorders (e.g., congenital obstructive uropathy, Fabry s disease, medullary cystic disease, and nephrolithiasis)... 

OA is often divided into primary (idiopathic) and secondary disease (Table 55-1). Primary OA is the predominant form and occurs in the absence of a precipitating event. It may assume a localized, generalized, or erosive pattern. Localized OA is distinguished from generalized disease by the number of sites involved, whereas erosive disease is characterized by an erosive pattern of bone destruction and marked proliferation of interphalangeal joints of the hands. Secondary OA occurs when the disease is caused by congenital or developmental disorders or inflammatory, metabolic, or endocrine diseases. 

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