Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01185 (vasopressin)
 23,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism.
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PMID:Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. 1855 46

A 13-month-old, male bichon frise was examined for the investigation of intermittent seizures, ataxia, abnormal behavior, polyuria, and polydipsia. At presentation, clinical and neurological examinations were unremarkable with the exception of mild truncal ataxia and a domed skull. Severe hyponatremia and hypoosmolality were identified, and following diagnostic testing a diagnosis of the syndrome of inappropriate antidiuretic hormone secretion (SIADH) was made. Magnetic resonance imaging revealed changes consistent with severe hydrocephalus. Water restriction resulted in increased serum osmolality and a reduction in severity of clinical signs. The current case report documents SIADH associated with hydrocephalus in a dog. Structural brain disease should be excluded before a diagnosis of idiopathic SIADH is made.
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PMID:Syndrome of inappropriate antidiuretic hormone secretion associated with congenital hydrocephalus in a dog. 1972 49

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is occasionally seen after hypothalamic injury or dysfunction, although it typically occurs in association with other endocrine disturbances. It is has never been described as a presenting feature of a suprasellar arachnoid cyst (SAC) in the pediatric population. The authors describe the case of an enlarging SAC resulting in SIADH as the only presenting feature, with an otherwise normal hypothalamic-pituitary axis. An SAC was diagnosed in utero in this 5-month-old girl who had a normal functioning hypothalamic-pituitary axis on presentation. Because of cyst enlargement and hydrocephalus, the patient was scheduled for surgery; however, preoperative labs revealed SIADH. After stabilizing the serum sodium concentration with fluid restriction and the administration of 3% sodium chloride, the patient underwent endoscopic cyst fenestration. Postoperatively, she had complete resolution of the SIADH. Syndrome of inappropriate antidiuretic hormone secretion as the presenting symptom of an SAC has not been previously described. In the aforementioned patient, the proposed mechanism for SIADH was enlargement of the suprasellar arachnoid cyst causing compression of the supraoptic and paraventricular nuclei and thus overstimulating the secretion of arginine vasopressin, which resulted in SIADH. The association of SIADH with an SAC is reportable, as is the resolution of the SIADH via cyst fenestration. The authors suggest that SIADH is an uncommon presenting feature of SACs and that syndrome resolution is possible with cyst decompression.
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PMID:Suprasellar arachnoid cyst resulting in the syndrome of inappropriate antidiuretic hormone secretion. 2103 74

A 25-year-old man complained of disorientation and gait disturbance during the past 2 weeks. The patient had been treated for cerebellar astrocytoma by open surgery thrice, at ages 3, 5, and 11. Ventriculo-peritoneal shunt was performed for postoperative hydrocephalus at the age of 11. Magnetic resonance imaging(MRI)showed enlargement of both lateral ventricles, ballooning of the third ventricle, and obstruction of the aqueduct of Sylvius. The patient was diagnosed with recurrent hydrocephalus due to shunt malfunction, and treated by endoscopic third ventriculostomy(ETV)using a flexible endoscopic system. He was relieved of the symptoms immediately after surgery, and postoperative MRI showed reduced hydrocephalus. However, the symptoms reoccurred 6 days after surgery. Computed tomography did not show recurrence of hydrocephalus. Laboratory tests revealed hyponatremia(117mEq/L)and low serum osmolality(240mOsm/kg). The patient gained 2.4 kg over the preoperative body weight. The syndrome of inappropriate secretion of antidiuretic hormone(SIADH)was considered to be the cause of the hyponatremia, which was successfully treated with 3 days of fluid restriction. The patient was discharged 24 days after surgery. Hyponatremia is a relatively rare complication of ETV. When a patient shows recurrence of hydrocephalus-related symptoms during the early postoperative period after ETV, hyponatremia caused by SIADH should be considered.
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PMID:[Hyponatremia caused by SIADH following endoscopic third ventriculostomy: a case report]. 2469 94

Fourth ventricular outlet obstruction (FVOO) is a rare cause of obstructive hydrocephalus. Although FVOO accompanied by malformative syndrome and secondary causes of obstruction are common, there are few reports of primary FVOO (PFVOO). The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a rare presenting feature of hydrocephalus. A 1-year, 8-month-old boy with a normal head circumference developed SIADH accompanied by rapid deterioration of symptoms of intracranial hypertension. PFVOO was diagnosed because magnetic resonance imaging revealed an enlarged ventricular system with a barely visible membranous obstacle at the foramen of Magendie. All symptoms were resolved by endoscopic third ventriculostomy. PFVOO should be considered as a rare form of congenital obstructive hydrocephalus, especially in patients with tetraventricular hydrocephalus. To the best of our knowledge, this is the first case of an infant with SIADH, resulting from acute deterioration of non-tumoral raised pressure hydrocephalus.
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PMID:Rapid deterioration of primary fourth ventricular outlet obstruction resulting in syndrome of inappropriate antidiuretic hormone secretion. 2525 67

Mammalian class IX myosin Myo9a is a single-headed, actin-dependent motor protein with Rho GTPase-activating protein activity that negatively regulates Rho GTPase signaling. Myo9a is abundantly expressed in ciliated epithelial cells of several organs. In mice, genetic deletion of Myo9a leads to the formation of hydrocephalus. Whether Myo9a also has essential functions in the epithelia of other organs of the body has not been explored. In the present study, we report that Myo9a-deficient mice develop bilateral renal disease, characterized by dilation of proximal tubules, calyceal dilation, and thinning of the parenchyma and fibrosis. These structural changes are accompanied by polyuria (with normal vasopressin levels) and low-molecular-weight proteinuria. Immunohistochemistry revealed that Myo9a is localized to the circumferential F-actin belt of proximal tubule cells. In kidneys lacking Myo9a, the multiligand binding receptor megalin and its ligand albumin accumulated at the luminal surface of Myo9a-deficient proximal tubular cells, suggesting that endocytosis is dysregulated. In addition, we found, surprisingly, that levels of murine diaphanous-related formin-1, a Rho effector, were decreased in Myo9a-deficient kidneys as well as in Myo9a knockdown LLC-PK1 cells. In summary, deletion of the Rho GTPase-activating protein Myo9a in mice causes proximal tubular dilation and fibrosis, and we speculate that downregulation of murine diaphanous-related formin-1 and impaired protein reabsorption contribute to the pathophysiology.
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PMID:Rho GAP myosin IXa is a regulator of kidney tubule function. 2613 56

We treated a patient with neurosarcoidosis, which caused the syndrome of inappropriate secretion of antidiuretic hormone (SIADH), in whom diagnosis was performed using neuroendoscopy. The patient was a 56-year-old female who was hospitalized for hyponatremia and diagnosed with SIADH based on a detailed examination. During the course, she developed impaired consciousness due to acute hydrocephalus, which improved after ventricular drainage. Head magnetic resonance imaging (MRI) confirmed nodular lesions at the floor of the third ventricle and the cerebral aqueduct. Neuroendoscopic biopsy led to the diagnosis of neurosarcoidosis. Her hyponatremia improved after steroid therapy. Neurosarcoidosis can cause SIADH, and complication of hydrocephalus may lead to a poor prognosis. Neuroendoscopy appears to be effective for the diagnosis of neurosarcoidosis with hydrocephalus and helps in deciding the treatment modality.
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PMID:A Case of Neurosarcoidosis-Induced Syndrome of Inappropriate Secretion of Antidiuretic Hormone Diagnosed with Neuroendoscopy. 3015 82


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