Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 23 year old female, born in 1957, was diagnosed as having idiopathic thrombocytopenic purpura at the age of 3 and treated with prednisolone during her childhood with no response. On her regular check-up in 1978, facial edema and proteinuria suggested renal disease. The family history was negative for bleeding diathesis or renal disease. Close examination revealed the following: WBC 4,200/microliters without leukocyte inclusions, RBC 3.42 x 10(6)/microliters, Hb 11.7 g/dl. PT 10.6 sec, APTT 28.9 sec. Platelet count 4,500/microliters by HEMATRAK 360, and 40 x 10(3)/microliters measured by microscopic method. Giant platelets were noted on peripheral blood smear with an average diameter of 6.1 microns. Bleeding time (Duke) was 12.0 min. Number of megakaryocytes was increased although platelet production was remarkably decreased. Results of platelet aggregation and retention tests were normal. Platelet life span (T1/2) was 2.3 days. Sensory neural hearing loss, congenital cataract, double ureter and short small intestine were also found. Chromosome analysis showed 46XX. She underwent splenectomy resulting in increase of the platelet count to 226 x 10(3)/microliters. The increased platelet count, however, gradually decreased to the initial count in 2 years although the bleeding tendency was improved. In 1987, renal function deteriorated, causing intractable hypertension. The serum creatinine was 4.8 mg/dl. The following year she developed cerebral bleeding and died 4 days after the episode. The serum creatinine was 8.6 mg/dl.
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PMID:[Macrothrombocytopenia with deafness, nephritis, cataract, short small intestine, and double ureter]. 221 83

Using mice transgenic for the growth hormone gene (TGHM), we have studied the effects of a systemic elevation of growth hormone on vascular growth with the aim of investigating the role of vascular mass changes in producing hypertension. In contrast to human acromegaly or gigantism, there was no elevation of blood pressure in TGHM, but there were significant increases in vascular wall mass. In accordance with a presumably increased perfusion of larger organs, the medial cross-sectional areas of thoracic aorta and mesenteric resistance vessels were greater in the TGHM. These differences could be normalized in the aorta by body weight and in the mesenteric vessel by small intestine weight. Furthermore, the brain was not significantly heavier in the TGHM, and their carotid and cerebral vessels also were not larger. Wall-to-lumen ratios were similar in the aorta, carotid, and middle cerebral arteries suggesting that wall stress was the controlling factor in wall thickness. Surprisingly, the mesenteric vessels had increased wall-to-lumen ratio, which was similar to that seen in hypertensive vascular remodeling but in a normotensive animal. In an attempt to explain this finding it was noted that the pattern of mesenteric vascular networks and even organized structure within the vessel wall itself appeared to be fixed, perhaps by genetic mechanisms. Thus, vascular network structure may be a potentially limiting factor in the ability of the vessel wall to remodel and may have been responsible for the greater wall-to-lumen ratio in TGHM mesenteric vessels. A similar situation in human acromegaly or gigantism could result in a circulation marginally able to correct for other demands on blood flow resulting in about one third of cases being hypertensive.
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PMID:Vascular remodeling in the growth hormone transgenic mouse. 280 41

A personal series of 256 cases of acromegaly/gigantism seen over a 20-year period from 1963 is described. The insidious nature of the condition resulted in delay in diagnosis which was often made by a doctor when seeing the patient for an unrelated problem. Other features which commonly led to the diagnosis being made were headache, change in appearance, carpal tunnel syndrome, amenorrhoea and diabetes. The Hardy system for grading the radiological appearance of the pituitary tumour was used. Widely invasive tumours were not common but tended to occur in patients with younger age of onset and high GH levels. The occurrence of various symptoms and clinical features was noted and the changes resulting from reducing the GH level to normal. The incidence of hypertension, but not of coronary artery disease, is increased and the blood pressure may be reduced following successful treatment. The effects on the upper and lower respiratory tract are reported as well as sleep apnoea and problems associated with anaesthesia. Skin manifestations included sweating, pigmented skin tags, acanthosis nigricans and cutis verticis gyrata. In the skeletal system the incidence of kyphoscoliosis and osteoarthritis especially of the hip is reported: the question of hip replacement is discussed. Diabetes mellitus disappeared in most cases if the acromegaly was cured. In men but not in women the incidence of colloid nodular goitre was increased as was hyperthyroidism in middle-aged women. In two patients a parathyroid adenoma was present: hypercalcaemia was present in five additional patients, but the cause was not determined. The common occurrence of amenorrhoea in the younger women was noted, it was not always associated with hyperprolactinaemia, and often responded to successful treatment of the acromegaly. The association of acromegaly with hirsutism and galactorrhoea is confirmed. The incidence of impotence and loss of libid in the men is discussed: in a proportion of those in whom the acromegaly was cured, potency returned, but in a number depression occurred and what was believed to be psychogenic impotence persisted. Hyperprolactinaemia was found in 49 out of 151 patients with active acromegaly in whom the prolactin level was measured. Previous reports have indicated a doubling of death rates in acromegalics. In this series there were 47 deaths observed compared to 37.2 expected. The increased death rate was in women of all ages and in men under the age of 55, The increased deaths in the women were from cardiovascular and cerebrovascular causes and from breast cancer.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Acromegaly. 330 90

The distribution of calcium in the mitochondria of the adrenal gland was studied during development of adrenal regeneration hypertension. Electron opaque precipitate (calcium antimonate) was localized predominantly in the intercristal space within mitochondria and in cisternae of smooth endoplasmic reticulum. Stereological techniques were employed to quantitate the volume per cell of precipitate. Compared to the zona glomerulosa or zona fasciculata of controls, the volume per cell of electron opaque precipitate in mitochondria of the regenerating gland was significantly reduced at 5 and 14 days after enucleation. By 21 days, the volume of mitochondrial precipitate per cell, while more than that in zona glomerulosa cells, was less than in mitochondria from control zona fasciculata cells. As a comparison, normal rats were treated with ACTH or were hypophysectomized. ACTH-treatment did not greatly increase the precipitate associated with mitochondria in the zona fasciculata. Mitochondria in the zona fasciculata of hypophysectomized rats however showed a significant reduction in precipitate per cell correlating with a significantly reduced volume of mitochondria per cell as compared to those of control zona fasciculata cells. Giant mitochondria were observed in hypophysectomized animals. Volume of precipitate per cell associated with smooth endoplasmic reticulum was increased slightly, but significantly, as compared to that in controls treated with ACTH, whereas in hypophysectomized rats, it was decreased significantly. Adrenocortical cells arising from the zona glomerulosa and sub zona glomerulosa region differentiate to zona fasciculata cells during regeneration and may have an altered capacity to concentrate calcium. Change in intramitochondrial calcium may be correlated with the reduced formation of corticosterone from its precursor, deoxycorticosterone, thereby contributing to the pathogenesis of adrenal regeneration hypertension.
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PMID:Cytochemical localization of calcium in mitochondria of regenerating rat adrenal cortex. A study of adrenal regeneration hypertension. 356 Feb 95

Over a 5-year period 14 patients with acromegaly and gigantism were seen at the endocrine clinic of King Edward VIII Hospital: 9 were Blacks and 5 Indians; 8 of the patients were women. The mean age of the patients was 46 years. Surprisingly, only 2 patients complained of acral overgrowth. Symptomatology was varied and not characteristic of the condition. On examination all patients had unequivocal signs of soft-tissue and bony overgrowth, 64% had visual abnormalities and 50% hypertension. Radiologically, 88% showed an enlarged pituitary fossa. On biochemical investigation, the fasting levels of growth hormone (GH) were increased in 12 patients and during oral glucose tolerance tests, the GH levels in these 12 patients were not suppressed. One patient in whom the fasting GH level was not increased had progressed to the stage of panhypopituitarism, in the remaining patient challenge with thyrotrophin-releasing hormone (TRH) led to increased GH levels and L-dopa challenge resulted in a paradoxical decrease in GH levels. Seven patients with increased GH levels who were challenged with L-dopa showed the typical decrease in GH levels found in this condition; in 5 of these patients, challenged with TRH, GH levels increased. The findings emphasize that despite the ease of clinical diagnosis, appropriate biochemical investigations are necessary to confirm the exact status of the disease, which is rare in the population studied.
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PMID:The clinical presentation and biochemical diagnosis of acromegaly and gigantism. 680 79

A case of 17-alpha-hydroxylase deficiency in a genotypic male is described. The patient, who had grown up as a female, at the age of 18 years by chance was seen for enteritis. She presented primary amenorrhea and lack of secondary sexual characteristics combined with hypertension and mild hypokalemia due to excess of mineralcorticoids. The hormonal profile observed under basal conditions was evocative of a deficiency in 17-alpha-hydroxylase. High plasma aldosterone concentrations, in the face of suppressed PRA, were related to interference in RIA method: low plasma aldosterone values were observed when HPLC separation was applied. Eunucoid appearance and gigantism (195 cm) has rarely been observed as a fenotypic expression of this enzymatic deficit, but are justified by deficiency of both androgens and estrogens.
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PMID:[Male pseudohermaphroditism due to 17-alpha-hydroxylase deficiency]. 870 21

A 36 year old white female came to our service after having been evaluated on repetitive occasions in the past for a workup of gigantism and acromegalic features. Since childhood she had developed tall stature, frontal bossing, prominence of zygomatic bones, separated teeth, large hands and size 14 shoes. Human growth hormone and somatomedin serum levels had been normal on all occasions tested. Her past history was significant for primary amenorrhea and a 12 year history of hypertension. On physical examination BP was 140/100, height 6' 2", weight 2571 bs. Her phenotype was truly acromegalic. There was absence of axillary and pubic hair with no breast development. External genitalia was of female appearance. Laboratory evaluation showed increased FSH of 88 mlU/ml, increase LH of 65.6 mlU/ml and decreased E2 of 12.6 pg/ml. Other findings were low serum cortisol of 0.2 mg/dl, high ACTH of 344 pg/ml, low 17-Ketosteroids, high pregnenolone levels of 595 mg/dl, low 17-hydroxypregnenolone less than 10 ng/dl, very high aldosterone of 31 ng/dl and suppressed PRA of less than 0.1 ng/ml. A pelvic sonogram showed a right ovoid structure which could represent a gonad and failed to identify the uterus and left gonad. A bone densitometry showed a decrease bone mineral density compatible with osteoporosis. Chromosome study showed a karyotype of 46-XY. A diagnosis was made of congenital adrenal hyperplasia secondary to 17-alpha-hydroxylase deficiency in a genotypic male. Our patient was referred to the department of gynecology for surgical removal of the gonads. It is amazing how a patient with severe adrenal insufficiency can withstand 36 years of her life undiagnosed without going into an adrenal crisis. Her tall stature and acromegalic features were the striking signs confusing all physicians and delaying the correct diagnosis and appropriate treatment. There has been reported worldwide, nearly 120 cases with documented severe 17-alpha-hydroxylase deficiency. To our knowledge this is the first case identified in Puerto Rico of male pseudohermaphroditism secondary to 17-alpha-hydroxylase enzyme deficiency.
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PMID:[Male pseudohermaphroditism caused by enzymatic deficiency of 17-alpha-hydroxylase. 1st case reported in Puerto Rico]. 957 56

Giant aneurysms (> 2.5 cm) represent only 5-7% of all aneurysms. Nevertheless, their management is rather difficult due to their atypical natural history and peculiar treatment. Clinical history of giant aneurysms does not differ from that of the smaller ones regarding the incidence of subarachnoid hemorrhage, but it is complicated by much more neurologic deficits and by the occurrence of chronic intracranial hypertension syndrome. Diagnosis is essentially based upon CT scan and MR imaging in order to detect the morphological mass features and anatomical relationships, and upon angiography to appreciate characteristics regarding arterial flow and vascular relationships. The goal of treatment lies in the exclusion of the aneurysmal sac from the blood-stream and in the reduction of the mass effect. The treatment may be either surgical, endovascular or both. The most common surgical techniques consist in the direct occlusion of the neck of the aneurysm by means of metallic clips, or by fastening or trapping the carrier vessel or by removing the aneurysmal sac with the reconstruction of the arterial aspect when severe mass effect is detectable. The use of endovascular techniques goes for occlusion of the carrier vessel with balloons or for dynamic study of the collateral vascular districts with temporary occlusions.
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PMID:[Giant aneurysms]. 977 48

Aneurysms of diameter above 25 mm, determined as giant aneurysms, are thought to be surgically difficult. The most common symptom of the presence of aneurysm is subarachnoidal hemorrhage. Giant aneurysm may cause focal neurological symptoms, very rarely may show symptoms of intracranial hypertension. In the presented case a 47-year old woman after the first epilepsy attack the dominated symptoms were those of intracranial hypertension. CT suggested brain tumour of 70 mm diameter. Brain angiography revealed giant aneurysm of the left middle cerebral artery. After having considered differed method of therapeutic management, microsurgical operative technique was applied in general anesthesia with brain protection.
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PMID:Giant brain aneurysm--difficulties in diagnosis and treatment. Case report. 1145 53

Giant renal cysts measuring more than 15 cm in greatest diameter are uncommon and the association with erythrocytosis and hypertension is very rare. We present a case of a 22-year-old man with an incidental giant left renal cyst associated with hypertension and polycythemia that was treated by drainage and laparoscopic excision, followed by resolution of both hypertension and erythrocytosis.
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PMID:Remission of erythrocytosis and hypertension after treatment of a giant renal cyst. 1210 Sep 48


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