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A novel mutation,IVS2-2a→G,associated with acute intermittent porphyria in a Chinese family
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نویسنده
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jiao h. ,xianfeng z. ,hui h. ,malizhen department of endocrinology and metabolism ,yuhong z. ,chu z.
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منبع
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journal of the pakistan medical association - 2015 - دوره : 65 - شماره : 8 - صفحه:898 -900
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چکیده
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Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. we report a case of a woman with severe menstruation-related abdominal pain,hyponatraemia,and psychiatric symptoms. excessive porphobilinogen was found in her urine. a new mutation in intron 2 (ivs2-2a→g),which had never previously been reported in patients with porphyria or in healthy chinese population,was identified in the heterozygous state in the patient and her mother. © 2015,pakistan medical association. all rights reserved.
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کلیدواژه
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Acute intermittent porphyria; Gene mutation; Menstruation; Porphobilinogen deaminase
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آدرس
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department of endocrinology and metabolism,hangzhou first people’s hospital,nanjing medical university, China, department of endocrinology and metabolism,hangzhou first people’s hospital,nanjing medical university, China, department of endocrinology and metabolism,hangzhou first people’s hospital,nanjing medical university, China, hangzhou first people’s hospital,nanjing medical university, China, department of endocrinology and metabolism,hangzhou first people’s hospital,nanjing medical university, China, department of endocrinology and metabolism,hangzhou first people’s hospital,nanjing medical university, China
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Authors
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