Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. J Clin Invest ; Published erratum appears in J Clin Invest ; Isolation of human aquaporin-CD gene. JBiol Chem ; Requirement of human renal water channel aquaporin-2 for the vasopressin-dependent concentration of urine.
Science ; Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin-2 water-channel gene. Am JHum Genet ; Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation.
J Clin Endocrinol Metab ; An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest ; Nat Genet ; Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
Hum Mutat ; Lyon MF. Gene action in the X-chromosome of the mouse Musmusculus L. X inactivation in females with X-linked disease. N Engl J Med ; Nephrogenic diabetes insipidus in North America - the Hopewell Hypothesis.
Nephrogenic diabetes insipidus: a novel x-linked dominant inheritance pattern and normal structural V2 receptor gene.
A polymorphism in the coding region of the vasopressin type 2 receptor V2 R gene. Hum Mol Genet ; Functional characterization of five V2 vasopressin receptor gene mutations. Mol Cell Endocrinol ; A novel polymorphism in the coding region of the vasopressin type 2 receptor gene. Braz J Med Biol Res ; Report of 33 novel mutations and analysis of families with X-linked nephrogenic diabetes insipidus. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus. Estimado Amig. Llevando un buen seguimiento de la enfermedad es posible reducir o demorar sus consecuencias para su salud.
La diabetes es un trastorno donde el cuerpo humano deja de producir la cantidad suficiente de insulina para procesar los alimentos. El estilo de vida es uno de los factores que puede llevar a que una persona padezca de diabetes. The disorder usually presents with anterior pituitary failure with preservation of posterior pituitary functions.
One of the hormones elaborated in the hypothalamus and carried through the hypothalamic Neurohypophisiary brush until its store place in the neuro hypophysis is the vasopresine. The fluid deprivation test should be performed in young children with significant polyuria and possible diagnosis of primary neurogenic or nephrogenic diabetes insipidus, under strict vigilance so as to avoid a severe picture of dehydration. Estudio prospectivo de una serie de 23 casos Predicitve value of the Knosp classification in the staging of invasive pituitary macroadenomas.
Urgell Esc 2 a. The foregoing precludes progressive weight loss. Previous article Next article. When the concentration test has revealed a deficiency of the ability of the renal concentration, the AVP response test should be performed.
A description of a case. Practical algorithms in pediatric nephrology. Todos ellos fueron intervenidos mediante un abordaje transesfenoidal. Surgical management of giant pituitary adenomas. Among the different groups of patients with nephrogenic diabetes insipidus due to a secondary interstitial tubular disease, one of the most important is that caused by kaliopenic nephropathy which presents in children with severe malnutrition.
Acquired nephrogenic diabetes insipidus can insioida caused by electrolyte imbalances e. During a crisis episode in patients with anemia of falciform cells an increase in the viscosity of the blood may occur in the vasa recta of the renal medulla, altering the multiplier or interchange mechanisms of the counter current, decreasing the hypertonicity of the renal medulla and causing polyuria with resistance to diaebtes antidiuretic hormone.
However, hypokalemia produced by hydrochlorothiazide could compromise the insipica of urinary concentration of the patients with nephrogenic diabetes insipidus. This hormone is also called anti diuretic hormone and has among its main functions to allow the re absorption of water in the collecting tubes and distal tubes of the kidneys to concentrate urine.
Endoscopic endonasal approaches to the cavernous sinus: Thus, under the influence of the osmotic gradient of sodium, water is reabsorbed intracellularly, enters the cell through the aquaporin-2 water channel and exits the cell towards the interstitium through aquaporin-3 and aquaporin-4, which is located in the basolateral cell membrane Fig.
The current state articuloz affairs. Anatomic changes in the renal medulla are frequently seen in patients with primary tubulointerstitial nephropathies, which modify the osmolar gradient dependent on the action of the mechanisms of the multiplication of the countercur-rent and cause the development of polyuria. Choose one of the access methods below or take a look at our subscribe or free trial options.
0コメント