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Copyright V. Ventruto / A. Di Luccio Genus database 698 adrenal 18-hydroxysteroid dehydrogenase deficiency Eponyms: Inheritance: ALDOS aldosterone deficiency II aldosterone synthase deficiency CMO II deficiency corticosterone methyl oxidase II deficiency corticosterone methyloxidase II deficiency steroid 11-beta-hydroxylase deficiency autosomal recessive Semeiological Metabolic disorder, isolated defect. Failure to thrive, growth retardation, abnormality in serum electrolytes, salt depletion, hyperkalemia with normal genitalia. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS peripheral vessels changes hypertension LABORATORY DATA adrenal changes adrenal dysfunction adrenal cortex hormones 18-hydroxylase adrenal, low activity adrenal insufficiency, adrenal hypoplasia corticosterone methyl oxidase deficiency hydroxysteroid dehydrogenase defect biochemical markers metabolic defect chromosomal assignment chromosome 8q localization gene, structural-functional anomalies CYP11B2 cytochrome P450 subfamily XIB polypeptide-2, gene chr.8q21 gene analysis-DNA analysis plasma electrolytes-inorganic constituents, modified functions potassium, high levels (hyperkalemia) sodium , low levels; hyponatremia plasma proteins, anomalies hormones, dysfunctions steroidogenesis defects urine, constituent changes electrolytes-inorganic constituents OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, metabolic prenatal diagnosis, molecular SKELETAL DISORDERS stature, growth, modified habitus growth delayed, failure to thrive, growth retardation Super group: adrenal 18-hydroxysteroid dehydrogenase deficiency Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS hormones, dysfunctions steroidogenesis defects Differential diagnosis: Bibliography 770 adrenocortical insufficiency, transient 21790 pseudohypoaldosteronism I, recessive type 28528 pseudohypoaldosteronism II, recessive type OMIM ID: 203410 OMIM ID: 124080 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.2039,2007 adrenal 18-hydroxysteroid dehydrogenase deficiency Page 2 of 2
