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Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus.

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Familial neurohypophyseal diabetes insipidus (FNDI) is a genetic disorder presenting with polyuria and polydipsia and is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The clinical manifestations of this disorder vary greatly depending on different mutations. The

Profound hypernatremia due to central diabetes insipidus.

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Diabetes insipidus is a rare endocrine disorder in paediatric patients. Polyuria is a cardinal manifestation that is extremely difficult to recognize in diapered infants. Careful urine quantification is the key to diagnosis in appropriate clinical setting. We report a case of a 4 months old infant

Hyperemesis gravidarum followed by refeeding syndrome causes electrolyte abnormalities induced rhabdomyolysis and diabetes insipidus.

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Although hyperemesis gravidarum (HG), an extreme form of morning sickness, is a common complication during pregnancy, HG associated simultaneous onset of rhabdomyolysis and diabetes insipidus due to electrolyte abnormalities are rare. A 34-year-old woman with severe HG at 17 weeks of gestation

A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report.

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X-linked nephrogenic diabetes insipidus (NDI) is a rare inherited disease, and is characterized by renal resistance to arginine vasopressin (AVP). Its diagnosis can be clinically challenging. The application of molecular genetic analysis can provide a rapid and definitive

X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy.

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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

Postoperative nausea and vomiting and pain after transsphenoidal surgery: a review of 877 patients.

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Although postoperative nausea and vomiting and pain after supra- and infratentorial craniotomy have been evaluated in multiple studies, there are few data regarding pain or postoperative nausea and vomiting after transsphenoidal procedures. Therefore, we reviewed the perioperative records of 877

Transient lymphocytic panhypophysitis associated with SIADH leading to diabetes insipidus after glucocorticoid replacement.

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A 52-year-old man presented with vomiting, general fatigue and hyponatremia. His symptoms and signs were consistent with the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Endocrine studies revealed hypopituitarism and administration of hydrocortisone resulted in a marked

Rathke's cleft cyst presenting with hyponatremia and transient central diabetes insipidus.

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We describe an 18-year-old female who complained of general weakness, nausea, vomiting, headache, and lightheadedness. On physical examination, she was euvolemic without visual or neurological deficits. The striking biochemical abnormality was hyponatremia (125 mmol/l). This hyponatremia met the

[Effectiveness of and tolerability to oral desmopressin in the treatment of central diabetes insipidus].

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Intranasal desmopressin represents the treatment of choice in Central Diabetes Insipidus. Nevertheless, this route of administration bears some practical disadvantage, linked to either difficult delivering technique, or the status of nasal mucose. The antidiuretic effectiveness of oral desmopressin

Long-term outcome in inherited nephrogenic diabetes insipidus.

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Inherited nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by impaired urinary concentrating ability. Little clinical data on long-term outcome exists.This was a single-centre retrospective medical record review of patients with a

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

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Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene,

A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.

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OBJECTIVE To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation. METHODS We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height

Central diabetes insipidus misdiagnosed as acute gastroenteritis in a pediatric patient.

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This case report describes an unusual presentation of nausea, vomiting and diarrhea, which was misdiagnosed as acute gastroenteritis in a 6-year-old girl. The patient later returned to the emergency department (ED) with severe dehydration from idiopathic central diabetes insipidus (DI). At her first

Congenital microgastria, growth hormone deficiency and diabetes insipidus.

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Microgastria is a rare malformation of the stomach always associated with variable patterns of malformations of the lung, heart, aortic arch, skeleton, and central nervous system. Many cases present with asplenia and hepatic symmetry as well as intestinal malrotation. We report a first case of a

Lithium-induced nephrogenic diabetes insipidus in older people.

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METHODS We report two patients. The first is a 68-year-old woman who presented with a 2-day history of vomiting. She was hypernatraemic and her elevated serum sodium concentration did not improve initially, despite adequate fluid replacement. She subsequently developed polyuria and polydipsia. The

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