Hyponatraemia – diagnostic difficulties in 2.5-year-old boy with nephrogenic syndrome of inappropriate antidiuresis. Case report
نویسندگان
چکیده
Normal sodium levels in the extracellular fluid are range of 135–145 mmol/L. Low serum (hyponatraemia) is a common water and electrolyte balance disorder. Dehydration overhydration most causes hyponatraemia children. This paper describes case 2.5-year-old boy admitted to paediatric ward due pneumonia. The child showed reluctance intake, hypoosmolar with hypouricaemia, increased urinary excretion absence abnormalities hydration status. He had family history persistent hypertension his grandfather. After excluding pituitary, thyroid, adrenal cortex pathologies, kidney disfunction, proliferative processes differential diagnosis, cerebral salt wasting syndrome, syndrome inappropriate secretion antidiuretic hormone renal-related antidiuresis were taken into account. aim study was discuss diagnosis chronic euvolemic draw attention need for genetic testing nephrogenic caused by activating point mutations vasopressin 2 receptor gene (V2R).
منابع مشابه
Nephrogenic syndrome of inappropriate antidiuresis.
The nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare, recently recognized disorder in water balance affecting not only infants but also adults. A new molecular mechanism responsible for NSIAD has recently been identified: a gain of function of the arginine vasopressin (AVP) receptor type 2 (V2R), causing the constitutive activation of the receptor. Clinical presentation and ...
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Mutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the mutant V2 receptor. This latter recently described disease may be diagnosed from infancy to adult...
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The patient is a 56-year-old man who entered the hospital because of hyponatraemia. He observed problems with short-term memory, gait disturbances, and had fallen while going downstairs. He also claimed attention deficits and visual disturbances. He had been presented to his primary care physician who observed a low serum Na (102 mmol/L) and referred him for further diagnostic studies. The pati...
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ژورنال
عنوان ژورنال: Pediatria i Medycyna Rodzinna
سال: 2022
ISSN: ['1734-1531', '2451-0742', '2391-5021']
DOI: https://doi.org/10.15557/pimr.2022.0045