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한국인 인슐린 비의존형 당뇨병 및 이차성 당뇨병 환자에서 글루코키나제 유전자 변이
남재현(Jae Hyun Nam),이현철(Hyun Chul Lee),김연의(Youn Euy Kim),권석호(Suk Ho Kwon),윤용석(Yong Suk Yoon),박석원(Suk Won Park),원영준(Young Jun Won),차봉수(Bong Su Cha),송영득(Young Duk Song),이은직(Eun Jig Lee),임승길(Sung Kil Lim) 대한내과학회 1998 대한내과학회지 Vol.54 No.6
Objectives: Mutations in the glucokinase (GCK) gene are considered a possible cause of maturity-onset diabetes of the young. The purpose of this study was to evaluate the contribution of this gene to the development of non insulin dependent diabetes mellitus (NIDDM), gestational diabetes mellitus (GDM) and post-renal transplantation diabetes mellitus (PTDM). Method: Identification of GCK mutation was attempted on 39 NIDDM patients, 2 GDM patients and 58 selected renal allograft recipients with PTDM and 45 normal controls. The exons in the GCK gene were examined by polymerase chain reaction (PCR), followed by analysis of single-stranded DNA conformational polymorphism (SSCP). The abnormal bands were also confirmed by DNA sequencing analysis. The exons of affected family members were also investigated for mutations of the GCK gene. Results: Two of the 58 PTDM patients (3.4%) were found to have CKK mutations. One had the mutation on exon 5 and the other on intron 7. One control subject had the mutation on intmn 9. The mutation of exon 5 was identified as a substitution of CCT (proline) for CTT (leucine) at codon 164, which has not ever reported before. The family members of the PFDM patient with mutation of exon 5 were analyzed by PCR followed by SSCP, and two of them revealed the same mutation. The abnormal band on the SSCP analysis of exon 7 was identified as the insertion of base C/T at the 39th nucleotide in intron 7. Two family members of this patients also had same band on SSCP. The one mutation of 45 normal controls was CT located at the 8th nucleotide in intron 9, which was a common polymorphism. Conclusion: We found GCK mutations in subjects with PTDM and we speculate that these mutations may be one of the contributing cause of PTDM.
Somatostatin 수용체 스캔에 양성인 갑상선 여포선종이 동반된 말단비대증 1예
권석호,황영웅,박용범,윤용석,원영준,임승길,이현철,허갑범 대한내과학회 1997 대한내과학회지 Vol.53 No.3S
말단비대증으로 진단된 48세 여자에서 somatostatin 수용체 스캔에 양성인 갑상선종양을 발견하여, 병리소견상 갑상선 여포선종으로 밝혀진 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다. Recently, the new technique that allows the in vivo visualization in man of the somatostatin receptor positive tumor after iv adminstration of the 123I-coupled somatostatin analogue Tyr-octreotide (somatostatin receptor scan) was developed. We have experienced a forty eight-year-old female patient with acromegaly and multiple thyroid nodules. Somatostatin receptor scan was performed. Unexpectedly, both pituitary tumor and multiple thyroid nodules were presented with positive by somatostatin receptor scan and we thought that multiple thyroid nodules might be malignancy, probably medullary thyroid carcinoma. Therefore, bilateral subtotal thyroidectomy was performed and pathologic finding showed thyroid follicular adenoma.
심낭삼출과 갑상선 기능저하증을 동반한 터너 증후군 1예
허갑범,이현철,임승길,송영득,남재현,권석호,김진석,윤용석 대한내분비학회 1997 Endocrinology and metabolism Vol.12 No.4
Clinical manifestations of hypothyroidism are very various and these degree are related to the severity and duration of the disease. Pericardial effusions, one of the manifestations of hypothy- roidism, were relatively common in the past. However, recently they may not be so frequent representative of hypothyroid subjects. The higher frequency of Hashimotos thyroiditis in Turners syndrome, especially those with an X-isochromosome, compared with the general population is well known. The pathophysiological process of autoimmunity is thought to be linked with the presence of an abnormal X-chromosome. Recently we experienced a case of X-isochromosome Turners syndrome with hypothyroidism and pericardial effusion and report it with reviews of the literatures. (J Korean Soc Endocrinol 12:661-666, 1997)
허갑범,이현철,임승길,김경래,송영득,차봉수,원영준,권석호,이광길,정보영,이루다 대한내분비학회 1997 Endocrinology and metabolism Vol.12 No.4
Carney Complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, spotty pigmentations and schwannomas. The criteria for diagnosis of the complex is the presence of two or more of the following conditions: 1) cardiac myxoma, 2) cutaneous myxoma, 3) mammary myxoma, 4) spotty mucocutaneous pigmentation, 5) primary pigmented nodular adrenal cortical disease (Cushing's syndrome), 6) testicular tumors (sexual precocity), 7) pituitary adenoma secreting growth hormone (acromegaly or gigantism). It is thought that the genetic defects which are responsible for Carney complex maps to the short arm of chromosome 2(2p16). There are about 200 patients with Carney complex reported in the world. We encounted a patient who had a cardiac myxoma with a family history of cardiac myxoma, acromegaly, lentigosis, testicular mass with calcification and left adrenal nodule. This patient met the criteria for the diagnosis of the complex. Therefore, we think this patient represents clinical presentation of the Carney complex and we report this case with reviews of the literatures. (J Korean Soc Endocrinol 12:633-641, 1997)
김현수,허갑범,이현철,임승길,김경래,송영득,남재현,송민경,권석호,박석원,이유미,윤용석,한설혜,이도연 대한내분비학회 1998 Endocrinology and metabolism Vol.13 No.4
Primary aldosteronism, not a common cause of high blood pressure, is a syndrome which results from excessively secreted aldosterone from adrenal gland and it accounts for 0.05-2.2% of unselected hypertension. In this case the lesion was not visualized on routine abdominal computed tomographic scan due to its small size. Therefore the selective adrenal venous catherterization & venous sampling was done. As there is some difficulty of sampling from Rt. adrenal vein, the method of measuring aldosterone vs. cortisol ratio of Lt. adrenal vein and inferior vena cava was used to localize the aldosterone-producing adenoma. Clinical symptoms normalized and laboratory data returned to normal range after the surgical adrenalectomy (J Kor Soc Endocrinol 13:652-658, 1998).
김현수,이상학,허갑범,이현철,임승길,김경래,송영득,남재현,권석호,이유미,윤용석 대한내분비학회 1997 Endocrinology and metabolism Vol.12 No.4
The causes of central diabetes insipidus(CDI) are numerous; some primary cases are idiopathic while most secondary cases are surgically induced or the result of tumor. The frequency of metastatic tumor as a cause of DI is 6% to 20% of cases, Variety of malignancies including breast, lung, colon, prostate cancer, and leukemia/lymphoma have been reported to metastasize to the pituitary, although most patients are asymptomatic. Clinical manifestations of pituitary metastases include anterior pituitary failure, visual disturbance, and extraocular muscle weakness. DI is the most common clinical manifestation of hypothalamic-pituitary axis(HPA) metastases. Anatomical basis far this clinical picture is that most metastases occur in the posterior lobe. We report on a 35-year-old male patient with meningeal involvement of malignant lymphoma that was thought to be associated with DI. Confirmation of primary malignancy was made by biopsy at site of cervical lymph node and tonsil, Pituitary involvement was suspected on brain MRI, and satisfactory symptornatic relief was obtained with vasopressin. Because of the progres- sion of underlying lymphorna that has shown no response to combined anticancer chemotherapy, the patient expired on 60th hospital day. (J Korean Soc Endocrinol 12:596-601, 1997)