ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical and genetic features of a Chinese family with von Hippel-Lindau (VHL) disease revealed by bilateral pheochromocytoma.</p><p><b>METHODS</b>The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members (including 3 patients) was amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.</p><p><b>RESULTS</b>The first presentation in the proband, his mother, and his sister was bilateral pheochromocytoma, and the missense mutation of 695G-A (Arg161Gln) in exon 3 of VHL gene was detected in the three patients. In the follow-up study, the proband and his mother were found to have other VHL tumors, induding retinal and cerebellar hemangioblastomas and pancreatic tumor. Neither clinical presentation of VHL disease nor gene mutation was found in other family members.</p><p><b>CONCLUSION</b>VHL disease should be suspected in some patients with familial pheochromocytoma, and VHL gene screening helps to achieve early diagnosis of the disease.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Adrenal Gland Neoplasms , Diagnostic Imaging , Genetics , Mutation , Pheochromocytoma , Diagnostic Imaging , Genetics , Tomography, X-Ray Computed , Von Hippel-Lindau Tumor Suppressor Protein , Genetics , von Hippel-Lindau Disease , Diagnostic Imaging , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the effect of potassium deficiency on glucose and insulin metabolism in primary hyperaldosteronism, including aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA).</p><p><b>METHODS</b>Totally 178 patients who were diagnosed as primary hyperaldosteronism (103 patients with APA and 75 with IHA) were divided into hypokalemia group and normal potassium group according to their serum potassium levels. All patients received 3 hours of oral glucose tolerance test and aldosterone test to observe the relationship among glucose, insulin and serum potassium.</p><p><b>RESULTS</b>Area under curve of serum potassium, area under curve of plasma insulin, and fasting serum insulin were significantly lower in the hypokalemia group than in the normal potassium group (P <0. 05, P <0. 01); area under curve of glucose and aldosterone level were significantly higher in the hypokalemia group than in the normal potassium group ( P < 0. 05 ) . The prevalence of metabolic syndrome was significantly higher in IHA than in APA (57. 3% vs 38. 8% ; P < 0. 05).</p><p><b>CONCLUSION</b>Hypokalemia may play an important role in inhibiting insulin secretion in primary hyperaldosteronism.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Blood Glucose , Metabolism , Glucose Tolerance Test , Hyperaldosteronism , Metabolism , Hypokalemia , Insulin , Metabolism , Metabolic SyndromeABSTRACT
<p><b>OBJECTIVE</b>To compare the mRNA expression of renin-angiotensin-aldosterone system in human subcutaneous and visceral adipose tissues.</p><p><b>METHODS</b>Total RNA was extracted from 12 human subcutaneous adipose tissues, 12 perirenal adipose tissue and 9 periadrenal adipose tissues. The expressions of angiotensinogen ( AGT) , renin, angiotensin converting enzyme ( ACE) , angiotensin converting enzyme 2 (ACE2), angiotensin I1 receptor type 1 (AT1), angiotensin II receptor type 2 (AT2 ), CYP11 B2, and their internal reference glyceraldehyde phosphate (GAPDH) were studied by reverse transcription-polymerase chain reaction. The ratios of each target genes were used to evaluate the expression levels of AGT, renin, ACE, ACE2, AT1, AT2, and CYP11B2 in different adipose tissues.</p><p><b>RESULTS</b>The mRNA expressions of AGT, ACE, ACE2, AT1, and AT2 were detected in human subcutaneous, perirenal, and periadrenal adipose tissues. However, CYPI B2 mRNA expression was not found in these three adipose tissues. The mRNA expressions of renin was only detected in perirenal and periadrenal adipose tissues, which was significantly higher in perirenal adipose tissues than in periadrenal adipose tissues ( P < 0. 05 ). The mRNA expressions of ACE and ACE2 in perirenal adipose tissues were significantly higher than that in subcutaneous adipose tissues ( P < 0. 05). The mRNA expressions of ACE were significantly higher than that of ACE2 in subcutaneous, perirenal, and periadrenal adipose tissues (P <0. 05). The mRNA expressions of AT1 were significantly lower than that of AT2 in periadrenal adipose tissues (P < 0. 05).</p><p><b>CONCLUSION</b>Local renin-angiotensin system exists in the adipose tissues; however, aldosterone is not synthesized in the adipose tissues.</p>
