- Familial hyperaldosteronism type III. [Review]
- JHJ Hum Hypertens 2017 Apr 27
- Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have be...
Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. FH-III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4 (also called GIRK4). These mutations alter the selectivity filter of the channel and lead to abnormal ion currents with loss of potassium selectivity, sodium influx and consequent increased intracellular calcium that causes excessive aldosterone biosynthesis. To date, eleven families have been reported, carrying six different mutations. Although the clinical features are variable, FH-III patients often display severe hyperaldosteronism with an early onset, associated with hypokalemia and diabetes insipidus-like symptoms. In most cases FH-III patients are resistant to pharmacological therapy and require bilateral adrenalectomy to control symptoms. In the present manuscript, we review the genetics and pathological basis of FH-III, the diagnostic work-up, clinical features and therapeutic management. Finally, we will describe a new case of FH-III of an Italian patient carrying a Gly151Arg mutation.Journal of Human Hypertension advance online publication, 27 April 2017; doi:10.1038/jhh.2017.34.
- Binostril endoscopic transsphenoidal neurosurgery for pituitary adenomas: experience with 42 patients. [Journal Article]
- OOncotarget 2017 Apr 09
- Here we review the technical aspects of our experience with the neuroendoscopic bilateral nostril (binostril) transsphenoidal approach for pituitary adenomas. A total of 42 patients were treated in o...
Here we review the technical aspects of our experience with the neuroendoscopic bilateral nostril (binostril) transsphenoidal approach for pituitary adenomas. A total of 42 patients were treated in our hospital from September 2013 to December 2015. Total tumor resection was completed in 31 cases, nearly full resection was achieved in 9 cases, and partial resection was achieved in 2 cases. In most cases clinical symptoms were relieved after surgery. These included 18/22 cases with visual field and vision disorders; 19/25 cases with headaches; 11/15 cases where high baseline PRL returned to normal levels; 6/7 cases where elevated blood GH returned to normal levels; and 2/3 cases where elevated blood ACTH returned to normal levels after surgery. Postoperative complications were observed in 13 patients: 8 cases of diabetes insipidus, 4 cases of cerebrospinal fluid rhinorrhea, and 1 case of subarachnoid hemorrhage. Among the key advantages of the neuroendoscopic binostril transsphenoidal approach for pituitary adenoma resection are its minimally-invasive nature, clear exposure of the operative field, high full-excision rates, improved peri-operative safety, and minor patient trauma with fewer postoperative complications.
- Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis. [Journal Article]
- CEClin Endocrinol (Oxf) 2017 Apr 26
- CONCLUSIONS: In this series of children INH with CDI as initial presentation, CDI was permanent and infrequently associated with anterior pituitary hormone deficiencies, despite a frequent association with non-stalk cerebral lesions. This article is protected by copyright. All rights reserved.
- [Diabetes Insipidus Centralis as First Symptom of an Infundibulohypophysitis]. [Journal Article]
- KPKlin Padiatr 2017; 229(2):93-95
- Late outcomes in children with Langerhans cell histiocytosis. [Journal Article]
- ADArch Dis Child 2017 Apr 25
- CONCLUSIONS: Sequelae were common after LCH, although some were mild. Neurological sequelae could be particularly severe and debilitating. Vigilant long-term follow-up would be essential for optimising patient outcomes. Further studies on the prevention and treatment of CNS disease of LCH are warranted.
- Presenting Symptoms of Pituitary Apoplexy. [Journal Article]
- JNJ Neurol Surg A Cent Eur Neurosurg 2017 Apr 24
- The classical term "pituitary apoplexy" (PA) describes a clinical syndrome usually characterized by abrupt onset of headache accompanied by neurologic and/or endocrinologic deterioration due to sudde...
The classical term "pituitary apoplexy" (PA) describes a clinical syndrome usually characterized by abrupt onset of headache accompanied by neurologic and/or endocrinologic deterioration due to sudden expansion of a mass within the sella turcica as a result of hemorrhage or infarction within a pituitary tumor and adjacent pituitary gland. PA is a medical emergency and a difficult diagnosis to establish. Thus this article reviews the presenting symptoms of PA patients to help clinicians recognize or at least suspect this critical condition early on. PA commonly occurs in the setting of a preexisting adenoma, and several patients are unaware of its existence prior to the onset of apoplexy symptoms, which are mainly of a neurologic, ophthalmologic, and endocrinologic nature. Neurologic symptoms include sudden-onset severe headache and other symptoms of subarachnoid hemorrhage, symptoms from compression of the cavernous sinus contents, nausea/vomiting, impaired consciousness, and symptoms of meningeal irritation. Ophthalmologic symptoms include visual field defects, visual loss, diplopia, and ophthalmoplegia. Endocrinologic disturbances include pituitary adenoma symptoms, cortisol deficiency, panhypopituitarism, diabetes insipidus, and syndrome of inappropriate secretion of antidiuretic hormone. Magnetic resonance imaging is the imaging method of choice to aid the PA diagnosis. Its differential diagnoses include cerebrovascular accidents, infectious diseases, and other causes of endocrinologic imbalance. Transsphenoidal surgery is the treatment of choice, especially if there are associated visual abnormalities and ophthalmoplegia. Clinicians should be aware of the presenting symptoms because early diagnosis may reduce the morbidity and mortality of this neurosurgical emergency.
- Clinical Outcome after Extended Endoscopic Endonasal Resection of Craniopharyngiomas: Two-institution Experience. [Journal Article]
- WNWorld Neurosurg 2017 Apr 19
- CONCLUSIONS: EEA is effective for the surgical resection of craniopharyngiomas, resulting in high rates of visual improvement and low complication rates. Adjuvant radiotherapy is a useful method for tumor control after incomplete resection.
- Primary lymphocytic hypophysitis: clinical characteristics and treatment of 50 cases in a single centre in China over 18 years. [Journal Article]
- CEClin Endocrinol (Oxf) 2017 Apr 19
- CONCLUSIONS: The sequence of anterior pituitary deficiencies in Chinese primary LYH patients was atypical (LH/FSH > TSH > ACTH > IGF-1 axis deficiency). A pharmacological dose of glucocorticoids was significantly associated with the improved anterior pituitary insufficiency. This article is protected by copyright. All rights reserved.
- Usefulness of anti-rabphilin-3A antibodies for diagnosing central diabetes insipidus in the third trimester of pregnancy. [Journal Article]
- EJEndocr J 2017 Apr 14
- We report a 27-year-old pregnant woman with polyuria, polydipsia and headache in the third trimester of pregnancy. Hypernatremia (153 mEq/L), high plasma osmolality (300 mOsm/kgH2O) and low urinary o...
We report a 27-year-old pregnant woman with polyuria, polydipsia and headache in the third trimester of pregnancy. Hypernatremia (153 mEq/L), high plasma osmolality (300 mOsm/kgH2O) and low urinary osmolality (92 mOsm/kgH2O) were observed at the admission to our hospital. Plasma arginine vasopressin (AVP) level was inappropriately low (2.2 pg/mL) compared to the high plasma osmolality. Plasma AVP responses to hypertonic-saline infusion were blunted, and her urine osmolality increased in response to desmopressin. The diagnosis of central diabetes insipidus was made from these results. Magnetic resonance imaging (MRI) of hypothalamic-pituitary region demonstrated a significant enlargement of the pituitary stalk, suggesting the presence of hypophysitis. In addition, serum anti-rabphilin-3A antibodies that have been recently reported as a biomarker of lymphocytic infundibulo-neurohypophysitis, were positive. Diabetes insipidus continued after delivery, suggesting that polyuria was not mainly due to excessive vasopressinase activity or reduced renal sensitivity to AVP by prostaglandin E2 that can cause temporal polyuria during pregnancy. We therefore clinically diagnosed central diabetes insipidus due to lymphocytic infundibulo-neurohypophysitis, without performing invasive transsphenoidal pituitary biopsy. This case suggested the usefulness of anti-rabphilin-3A antibodies for the etiological diagnosis of central diabetes insipidus during pregnancy.
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- Transient Splenial Lesion Following Abrupt Withdrawal of Carbamazepine. [Journal Article]
- IMIntern Med 2017; 56(8):989-990