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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.

Kim MJ, Kim YE, Ki CS, Yoo JH - Ann Pediatr Endocrinol Metab (2014)

Bottom Line: It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP).Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T).This is the first report of such a case in Korea.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.

ABSTRACT
Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.

No MeSH data available.


Related in: MedlinePlus

Family pedigree with familial neurophyseal diabetes inspidus in four generations. The black symbols indicate an affected subject; females are indicated by circles and males by squares. The arrow indicates the proband. Genetically tested individuals are indicated by the "+" symbol.
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Figure 1: Family pedigree with familial neurophyseal diabetes inspidus in four generations. The black symbols indicate an affected subject; females are indicated by circles and males by squares. The arrow indicates the proband. Genetically tested individuals are indicated by the "+" symbol.

Mentions: A 7-year-old boy was admitted to the hospital for persistent symptoms of polydipsia and polyuria that started in early infancy. He drank an average of 3.9 L of water per day and urinated an average of 5.1 L per day, including at least three times during the night; on physical examination, he was otherwise healthy. His height and weight were 123.3 cm (39th percentile) and 20.7 kg (15th percentile), respectively. His medical history was unremarkable, and he did not have a history of head trauma or symptoms of neurological or pituitary dysfunction. An evaluation of the family history revealed seven family members, spanning four generations, who were suspected of having the same symptoms for an extended period of time (Fig. 1). His father reported an intake of 11 L of water per day and a urine output of 12 L per day. His grandmother reported an intake of 10 L of water per day and a urine output of 9 L per day. The pedigree was consistent with autosomal dominant inheritance.


Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.

Kim MJ, Kim YE, Ki CS, Yoo JH - Ann Pediatr Endocrinol Metab (2014)

Family pedigree with familial neurophyseal diabetes inspidus in four generations. The black symbols indicate an affected subject; females are indicated by circles and males by squares. The arrow indicates the proband. Genetically tested individuals are indicated by the "+" symbol.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4316416&req=5

Figure 1: Family pedigree with familial neurophyseal diabetes inspidus in four generations. The black symbols indicate an affected subject; females are indicated by circles and males by squares. The arrow indicates the proband. Genetically tested individuals are indicated by the "+" symbol.
Mentions: A 7-year-old boy was admitted to the hospital for persistent symptoms of polydipsia and polyuria that started in early infancy. He drank an average of 3.9 L of water per day and urinated an average of 5.1 L per day, including at least three times during the night; on physical examination, he was otherwise healthy. His height and weight were 123.3 cm (39th percentile) and 20.7 kg (15th percentile), respectively. His medical history was unremarkable, and he did not have a history of head trauma or symptoms of neurological or pituitary dysfunction. An evaluation of the family history revealed seven family members, spanning four generations, who were suspected of having the same symptoms for an extended period of time (Fig. 1). His father reported an intake of 11 L of water per day and a urine output of 12 L per day. His grandmother reported an intake of 10 L of water per day and a urine output of 9 L per day. The pedigree was consistent with autosomal dominant inheritance.

Bottom Line: It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP).Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T).This is the first report of such a case in Korea.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.

ABSTRACT
Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.

No MeSH data available.


Related in: MedlinePlus