Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin‐neurophysin II gene

Elias, Paula Condé Lamparelli; Elias, Lucila Leico Kagohara; Torres, Natália; Moreira, Ayrton Custódio; Antunes‐Rodrigues, José; Castro, Margaret de

doi:10.1046/j.1365-2265.2003.01834.x

Cited by 36 publications

(21 citation statements)

References 57 publications

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“…In addition, intrafamilial variability of the age of onset of DI has been described, which may result from interactions with other genetic or environmental factors. The loss of AVP secretion is a gradual process with partial DI evolving towards complete AVP deficiency over time (16)(17)(18). According to the neurotoxicity hypothesis, the gradual accumulation of cytotoxic mutant AVP protein in the magnocellular neurons accounts for both the progressive nature and the dominant inheritance of the disease.…”

Section: Introductionmentioning

confidence: 99%

Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene

Brachet

Birk

Christophe

et al. 2011

European Journal of Endocrinology

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Objective: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI), a disorder caused by mutations in the vasopressin (AVP)-neurophysin II (NPII) gene, manifests gradually during early childhood with progressive polyuria and polydipsia. Patients are usually treated with synthetic AVP analog. If unlimited access to water is provided, prognosis is usually good even in the absence of specific treatment.In this study, we describe three families with adFNDI, in which growth failure was a prominent complaint, on the clinical and molecular level. Design/methods: Histories from affected and unaffected family members were taken. Height and weight of index patients were recorded longitudinally. Patients underwent water deprivation tests, magnetic resonance imaging, and genetic analysis. One mutant was studied by heterologous expression in cell culture. Results: A total of ten affected individuals were studied. In two of the three pedigrees, a novel mutation in the AVP-NPII gene was found. The index children in each pedigree showed growth retardation, which was the reason for referral in two. In these cases, water intake was tightly restricted by the parents in an attempt to overcome suspected psychogenic polydipsia and to improve appetite. Once the children were treated by hormone replacement, they rapidly caught up to normal weight and height. Conclusions: Genetic testing and appropriate parent counseling should be enforced in adFNDI families to ensure adequate treatment and avoid chronic water deprivation, which causes failure to thrive.

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Section: Introductionmentioning

confidence: 99%

Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene

Brachet

Birk

Christophe

et al. 2011

European Journal of Endocrinology

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“…The fl uid deprivation test was characteristic of AVP defi ciency as well as the absence of the hyper signal in the posterior pituitary. Family adjustment to polyuria and, consequently, polydipsia is an interesting fi nding in these cases and can be associated to progressive establishment of disease, which is corroborated by previous reports on gradual decline in vasopressin secretion (2). Most of the relatives have not realized that they had polydipsia because this was the familiar pattern of water ingestion, and they were studied only after the proband was investigated in our Service.…”

Section: Discussionmentioning

confidence: 72%

“…This familial disorder generally occurs some months to years after birth, and ongoing progressive AVP defi ciency has been described (2,3).…”

Section: Introductionmentioning

confidence: 99%

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

Melo

Marui

Brito

et al. 2008

Arq Bras Endocrinol Metab

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Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to defi ciency of arginine vasopressin (AVP). More than 50 mutations causing adFNDI have been already reported in the AVP gene. The aim of the present study is to analyze the AVP gene in four generations of one Brazilian kindred with adFNDI. The proband was a 31-year old female with huge hypotonic polyuria (10 L/day) dated from childhood. Molecular analysis included amplifi cation of all exons and exon-intron regions of the AVP gene by PCR and direct sequencing. Sequencing analysis showed a novel point mutation in heterozygous: G88V (GGC>GTC). All affected patients presented the same mutation also in heterozygous, while it was absent in four normal members. We expand the repertoire of mutations in AVP describing the novel G88V mutation in one Brazilian kindred with adFNDI.

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“…Since the mutation in this gene was first reported in 1991 by Ito et al [3], there have been 46 different mutations identified to date [2,[4][5][6][7][8]. Although the majority of mutations are located in the coding sequence of the signal peptide or the NPII domain [2], 18 different allelic variants are reported [2].…”

Section: Neurohypophyseal Diabetes Insipidus (Ndi) Is Caused By a Defmentioning

confidence: 99%

Novel Mutant Vasopressin-neurophysin II Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

et al. 2004

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Abstract. We describe a novel missense mutant of arginine vasopressin (AVP)-dependent neurohypophyseal diabetes insipidus in an autosomal dominant family. A 54-year-old woman was admitted to our hospital because of thyroidectomy for thyroid cancer. After thyroidectomy she was found to have hypernatremia and polyuria and polydipsia both of which had been present from childhood. She had no obstructive hydronephrosis. Her father, father's younger sister and her third son also had polyuria and polydipsia. Basal plasma AVP concentration at normal plasma osmolality was normal but did not respond to increased plasma osmolality despite hyperosmolality during infusion of hypertonic saline infusion, indicating that plasma AVP secretion was impaired. Sodium concentration in urine and urine osmolality were low and increased after nasal administration of DDAVP. There was a diminished but bright signal of pituitary posterior gland on magnetic resonance T1 weighted image. Molecular genetic analysis demonstrated that the patient and her son had a single heterozygous missense mutation (G®A) at nucleotide 1829 in 1 AVP allele, yielding an abnormal AVP precursor with lacking Glu-47 in its neurophysin II moiety. The abnormal AVP precursor may be related to the impaired AVP secretion.

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Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin‐neurophysin II gene

Cited by 36 publications

References 57 publications

Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene

Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

Novel Mutant Vasopressin-neurophysin II Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

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