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hypernatremia/prolina
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A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.
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We describe an infant with nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 (AVPR2) gene. A 1-month-old infant showed failure to thrive and hypernatremia. The water deprivation test revealed elevated serum osmolality and low urine osmolality. The
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy.
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BACKGROUND
Familial neurohypophyseal diabetes insipidus (FNDI), usually an autosomal dominant disorder, is caused by mutations in the arginine vasopressin (AVP)-neurophysin II preprohormone leading to aberrant preprohormone processing and gradual destruction of AVP-secreting cells. Patients
MST3 is involved in ENaC-mediated hypertension.
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Liddle syndrome is an inherited form of human hypertension caused by increasing epithelial Nap>+ p> channel (ENaC) expression. Increased Nap>+ p> retention through ENaC with subsequent volume expansion causes hypertension. In addition to ENaC, the
Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.
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A patient with severe pyruvate carboxylase deficiency presented at age 11 weeks with metabolic decompensation after routine immunization. She was comatose, had severe lactic acidemia (22 mM) and ketosis, low aspartate and glutamate, elevated citrulline and proline, and mild hyperammonemia. Head
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
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OBJECTIVE
Pyruvate carboxylase (PC) deficiency is a rare metabolic disease. Recently, therapeutic possibilities have been introduced. We aimed to report the largest series of the B type of PC deficiency, focusing on some neurological aspects that have not yet been documented.
METHODS
We
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