Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.
نویسندگان
چکیده
منابع مشابه
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.
Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disorder caused by mutations in the arginine vasopressin (AVP) precursor. The pathogenesis of FNDI is proposed to involve mutant protein-induced loss of AVP-producing neurons. We established murine knock-in models of two different naturally occurring human mutations that cause FNDI. A mutation in the AVP signal sequenc...
متن کاملVasopressin function in familial cranial diabetes insipidus.
A family suffering from cranial diabetes insipidus, that extends over 4 generations, is described. Inheritance of polyuria was autosomal dominant. Vasopressin function was studied in members of the last 2 generations, 4 of whom had polyuria. Osmoregulation of vasopressin secretion was assessed by infusion of hypertonic saline. Plasma vasopressin remained undetectable in one patient, while 2 oth...
متن کاملCranial diabetes insipidus secondary to arrested hydrocephalus.
An unusual case is described linking cranial diabetes insipidus with longstanding arrested hydrocephalus. The latter was demonstrated by computed tomographic (CT) and nuclear magnetic resonance (NMR) scans and cerebrospinal fluid pressure measurements. The increasing use of CT and NMR scans may result in this association of cranial diabetes and hydrocephalus being better defined.
متن کاملRhabdomyolysis associated with cranial diabetes insipidus.
Rhabdomyolysis has been reported to be associated with hyperosmolality in diabetic ketoacidosis and non-ketotic hyperosmolal state. Whether the rhabdomyolysis was due to hyperosmolality per se or whether hyperglycaemia also played a role is not clear. We hereby report a case of cranial diabetes insipidus with hypernatraemia and hyperosmolality complicated by rhabdomyolysis. None of the known ri...
متن کاملCranial diabetes insipidus in early infancy.
We report an infant who developed cranial diabetes insipidus after septicaemic shock. This condition should be considered in any child who suffers an acute collapse and it may be more common in the high risk neonate than has previously been recognised.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.8.544