An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
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Dinesh Giri
Abstract
Hereditary nephrogenic diabetes iInsipidus (HNDI) is an uncommon disorder due to a resistance to anti-diuretic hormone leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes. We report a mother and daughter in the same family with HNDI due to a heterozygous deletion in exon 1 of the AVPR2 gene, not previously described in the literature. A 5-year-old girl was referred for investigation of polyuria and polydipsia. The patient had a water deprivation test elsewhere at the age of 3 that was inconclusive. A degree of water restriction was imposed leading to headaches. The thyroid, cortisol, renal, and calcium profiles were normal. Her mother showed similar symptoms that had not been previously investigated. AQP2 (Aquaporin) and initial AVPR2 gene sequencing had not identified a mutation, but subsequent quantitative polymerase chain reaction analysis revealed a heterozygous large exon 1 deletion of the AVPR2 gene. The same deletion was also found in the child’s mother. The patient’s symptoms have significantly improved on appropriate treatment. Further analysis revealed skewed X inactivation in mother and daughter.
Acknowledgements
We thank Dr Sharon Whatley, Biochemical genetic service, Cardiff & Vale University Health Board, Cardiff for helping us to analyse blood samples for AVPR2 gene.
Conflict of interest statement: None.
References
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- EDITORIAL
- Newborn screening of metabolic disorders
- Current and future perspective of newborn screening: an Indian scenario
- Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
- Leptin and neuropeptide Y levels in newborns
- Markers of bone metabolism, serum leptin levels and bone mineral density in preterm babies
- Adipokines in umbilical cord blood from children born large for gestational age
- REVIEW
- Diabetes insipidus in children
- ORIGINAL ARTICLES
- Essential oils reduce autonomous response to pain sensation during self-monitoring of blood glucose among children with diabetes
- The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents
- Physical activity does not attenuate the relationship between daily cortisol and metabolic syndrome in obese youth
- Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism
- The effect of tamoxifen on pubertal bone development in adolescents with pubertal gynecomastia
- Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder
- CASE REPORTS
- An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
- Prepubertal gynecomastia and chronic lavender exposure: report of three cases
- An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?
Articles in the same Issue
- Frontmatter
- EDITORIAL
- Newborn screening of metabolic disorders
- Current and future perspective of newborn screening: an Indian scenario
- Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
- Leptin and neuropeptide Y levels in newborns
- Markers of bone metabolism, serum leptin levels and bone mineral density in preterm babies
- Adipokines in umbilical cord blood from children born large for gestational age
- REVIEW
- Diabetes insipidus in children
- ORIGINAL ARTICLES
- Essential oils reduce autonomous response to pain sensation during self-monitoring of blood glucose among children with diabetes
- The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents
- Physical activity does not attenuate the relationship between daily cortisol and metabolic syndrome in obese youth
- Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism
- The effect of tamoxifen on pubertal bone development in adolescents with pubertal gynecomastia
- Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder
- CASE REPORTS
- An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
- Prepubertal gynecomastia and chronic lavender exposure: report of three cases
- An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?
