X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy
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منابع مشابه
X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy
Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There wa...
متن کاملAntenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy.
A 5-year-old boy came to our outpatient clinic because of polyuria and polydipsia. His urine output was approximately 3.5 L/d. His laboratory data showed normal serum electrolytes and osmolality. The boy later suffered from vomiting and general weakness. He visited our emergency department and was hospitalized because of severe hypokalemia (1.9 mmol/L). His blood pressure was 105/ 73 mmHg. The ...
متن کاملA novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree
Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 ( AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symp...
متن کاملGenetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-link...
متن کامل[nephrogenic Diabetes Insipidus].
In spite of its rare incidence, the inherited renal tubular disorder nephrogenic diabetes insipidus (NDI) has in the past 10 years attracted the attention of a varied group of medical doctors and basic scientists. With the identification of the two genes involved in NDI, namely the vasopressin type-2 receptor (V2R) and the aquaporin-2 water channel (AQP2) genes, the identification of a large nu...
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ژورنال
عنوان ژورنال: Balkan Journal of Medical Genetics
سال: 2014
ISSN: 1311-0160
DOI: 10.2478/bjmg-2014-0078