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PubMed1988

Inherited coagulation disorders.

Inherited coagulation disorders have been diagnosed in many breeds of dogs as well as in mongrels and cats. This article presents the different coagulation factor deficiencies that are known to exist in small animals. A description is given of each coagulation factor along with the relevant clinical signs, inheritance, and the breeds affected. Suggestions are also given for the diagnosis and therapy of these deficiencies.

Afibrinogenemia↗
PubMed1990

C4B deficiency in two siblings with IgA nephropathy.

The development of IgA nephropathy in first degree relatives is a well-described, yet relatively uncommon, occurrence. The association of a C4 isotype deficiency or partial deficiency of another complement protein has been previously documented for patients with IgA nephropathy. The present report describes a family in which two siblings and their father had biopsy-confirmed IgA nephropathy; both siblings were deficient for the C4B isotype. In addition, one of the biopsied siblings and a third sibling with microscopic hematuria but no renal biopsy apparently had a partial deficiency of the complement regulatory protein, I. The findings in this family may be compatible with the hypothesis that a C4 isotype deficiency and/or a partial deficiency of an individual complement protein allows clinical expression of IgA nephropathy in an individual with a genetic susceptibility for the disease.

Adolescent↗
PubMed1997

Differential diagnosis of hemophagocytic syndrome: underlying disorders and selection of the most effective treatment.

Hemophagocytic syndrome consists of primary and secondary HLH. Efficacy of therapeutic measures and prognosis depend on degree of hypercytokinemia-associated organ failure at disease onset and underlying disorders. The underlying diseases related to hemophagocytosis and informative markers useful for differential diagnoses to select the most effective treatment are discussed. Differential diagnosis is difficult between confirmed FEL and familiality-unknown infantile VAHS (or sporadic FEL cases) in primary HLH and also among IAHS, benign EB-VAHS and EBV-related LAHS in secondary HLH. For primary HLH, assay of NK activity and for secondary HLH, studies on the serum cytokine pattern, EBV genomes and clonality determination might prove useful.

Adult↗
PubMed1994

The molecular genetics of familial venous thrombosis.

This study of naturally occurring mutations predisposing to venous thrombosis has led to a number of important advances in our understanding of protein structure and function relationships and the molecular basis of gene mutation. It has also potentiated the accurate and reliable presymptomatic and antenatal detection of predisposing gene lesions. Perhaps the major challenge facing us is the probabilistic nature of thromboembolism; only a certain proportion of patients with recognized gene defects predisposing to thrombosis will actually suffer from thrombotic episodes. Environmental insults of various kinds, and perhaps epistatic effects resulting from the influence of other loci, are likely to be contributory factors and will help to determine whether a thrombotic event occurs in individuals already compromised by a defect in a gene whose malfunction is known to predispose to thrombosis. Since molecular genetic techniques allow us to dissect the allelioheterogeneity of the different deficiency states by characterizing the wide spectrum of gene mutations giving rise to thrombosis, it may eventually prove possible to relate specific gene lesions to the probability of thromboembolism as well as to the severity and frequency of thrombotic episodes. The multifactorial nature of thrombosis demands a multidisciplinary approach to the analysis of its causation, early detection, treatment and prevention. The application of the new and powerful techniques of molecular genetics promises to make a substantial contribution to all aspects of thrombosis research.

Afibrinogenemia↗
PubMed1994

Genetic determinants of arterial thrombosis.

This chapter describes examples of genetic variation determining plasma levels of three independent risk factors for arterial thrombotic disease, namely fibrinogen, coagulation factor VII and plasminogen activator inhibitor type 1, together with a discussion of the underlying molecular mechanisms. In each case, the data suggest that there is interaction between genotype and environment in determination of the relevant plasma level, providing a possible explanation for the differential response of different individuals to their environment.

Afibrinogenemia↗