Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study of four successive siblings, age 9, 12, 14 and 16 years with cretinism associated with congenitial central hypothyroidism (central cretinism), born to a mother in the endemic goitre region of the Jos Plateau, Nigeria, is presented. Biochemically, the defects were characterized by abnormally low basal thyroxine, triiodothyronine and thyroid stimulating hormone, as well as refractory TSH response to thyrotrophin releasing hormone and gross hyperlipidaemia. Clinically, the intellectual, physical and neurological impairment varied from moderate in the youngest to very severe in the oldest. Contrasting clinical pictures of cretinism, which appeared related to age and previous treatment were found with a spectrum ranging from predominantly myxoedematous in the youngest to predominantly neurological in the 16 year old male. Response to adequate treatment was dramatic, with restoration of severe gait disturbance occurring almost completely, but the imprints of thyroid hormone deficiency on mental defects and intellectual performance remained almost unaltered. The parents and two older sisters were normal with normal thyroid function.
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PMID:Central cretinism in four successive siblings. 212 28

With the striking progress in analytic technology for detecting gene abnormalities, genetic analysis, such as polymerase chain reaction (PCR), has become a routine procedure in laboratory medicine. Consequently, the role of laboratory medicine in detecting genetic disease is increasing. However, in the process of genetic analysis maintaining consistency with clinical expression is necessary. In this symposium, the discussion includes the following items: (1) Genetic analysis of Maple Syrup Urine Disease (MSUD), (2) Analytic study of abnormal antithrombin III (TOYAMA), (3) Diagnostic procedures for anemia attributed to RBC membrane protein abnormality, (4) Genetic analysis of LDH-M subunit deficiency, (5) Development of a new prospect for hereditary hyperlipidemia, (6) Genetic analysis of hormone resistance syndromes: T3 receptor abnormality, and (7) Etiologic genetic analysis of pituitary cretinism. In general, DNA analysis in these cases can demonstrate wide variations in gene structural abnormalities. In MSUD, for instance, enzyme abnormalities, which occur in enzyme complex of various kinds include E1 alpha, beta, or E2. Currently, the cell fusion method, and PCR-SSCP method, miss-match PCR-DGGE method and so on are commonly used analytic methods. To sum up the issues discussed at this symposium, the most important function of genetic analysis is to clarify the relationship between the many clinical phenotypic expressions and the essential abnormality in the structure of the gene and/or function of the controlling proteins.
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PMID:[A clue for discovery and recent progress in gene abnormalities]. 835 May 10

Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this relationship is under debate. Prolonged untreated hypothyroidism induces short stature, abnormal pubertal development, and various other symptoms. However, children with long-standing hypothyroidism rarely present with signs of precocious puberty, or Van Wyk-Grumbach syndrome (VWGS). We report the case of a boy, 8 years and 4 months old, who had VWGS caused by prolonged untreated congenital hypothyroidism and AS. The boy had repeated gross hematuria and proteinuria and was diagnosed with AS by renal biopsy and genetic testing. He had normal renal function but severe growth retardation and hypothyroidism. Obesity, bone age delay, hyperlipidemia, and abnormal increased testicle size were also present due to prolonged untreated hypothyroidism. His thyroid antibody titer elevation was unclear, although ultrasonography and thyroid scanning showed a decrease in thyroid volume. We diagnosed the patient with congenital hypothyroidism caused by thyroid dysgenesis. VWGS was diagnosed due to hypothyroidism, delayed bone age, and pseudoprecocious puberty. To the best of our knowledge, this is the first report of a prepubertal Korean boy with prolonged untreated congenital hypothyroidism complicated by VWGS in AS.
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PMID:An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism. 3261 94