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X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study

  • Che Ry Hong , Hee Gyung Kang , Hyun Jin Choi , Min Hyun Cho , Jung Won Lee , Ju Hyung Kang , Hye Won Park , Ja Wook Koo , Tae-Sun Ha , Su-Yung Kim und Hae Il Cheong EMAIL logo
Veröffentlicht/Copyright: 13. September 2013
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 27 Heft 1-2

Abstract

A retrospective genotype and phenotype analysis of X-linked congenital nephrogenic diabetes insipidus (NDI) was conducted on a nationwide cohort of 25 (24 male, 1 female) Korean children with AVPR2 gene mutations, comparing non-truncating and truncating mutations. In an analysis of male patients, the median age at diagnosis was 0.9 years old. At a median follow-up of 5.4 years, urinary tract dilatations were evident in 62% of patients and their median glomerular filtration rate was 72 mL/min/1.73 m2. Weights and heights were under the 3rd percentile in 22% and 33% of patients, respectively. One patient had low intelligence quotient and another developed end-stage renal disease. No statistically significant genotype-phenotype correlation was found between non-truncating and truncating mutations. One patient was female; she was analyzed separately because inactivation and mosaicism of the X chromosome may influence clinical manifestations in female patients. Current unsatisfactory long-term outcome of congenital NDI necessitates a novel therapeutic strategy.

Keywords: AVPR2 gene; development; growth; renal function; urinary tract dilatation; X-linked recessive nephrogenic diabetes insipidus
Corresponding author: Hae Il Cheong, MD, Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea; and Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea, Phone: +82-2-2072-2810, Fax: +82-2-743-3455, E-mail:

This study was supported by a grant (A120017) from the Korea Healthcare technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea.

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Received: 2013-6-5
Accepted: 2013-8-14
Published Online: 2013-09-13
Published in Print: 2014-01-01

©2014 by Walter de Gruyter Berlin Boston

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https://doi.org/10.1515/jpem-2013-0231
Schlagwörter für diesen Artikel
AVPR2 gene; development; growth; renal function; urinary tract dilatation; X-linked recessive nephrogenic diabetes insipidus

Artikel in diesem Heft

  1. Masthead
  2. Masthead
  3. Editorials
  4. Editorial
  5. Consensus, guidelines and reviews
  6. Review article
  7. Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
  8. Images in pediatric endocrinology
  9. Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
  10. Original articles
  11. Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
  12. Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
  13. Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
  14. Clinical and laboratory features of temporary brittle bone disease
  15. Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
  16. Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
  17. Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
  18. Skeletal maturation and predicted adult height in children with premature adrenarche
  19. Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
  20. Body composition in young patients with galactose metabolic disorders: a preliminary report
  21. Detection of vascular risk markers in children and adolescents with type 1 diabetes
  22. X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
  23. Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
  24. Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
  25. Patient reports
  26. Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
  27. A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
  28. A novel genetic mutation in a Portuguese family with GCK-MODY
  29. Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
  30. Hypocalcemia in a paediatric case: from the clinical features to diagnosis
  31. A rare case of osteogenesis imperfecta combined with complete tooth loss
  32. Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
  33. Clinical expression of familial Williams-Beuren syndrome in a Turkish family
  34. The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
  35. Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
  36. Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
  37. Premature thelarche related to fennel tea consumption?
  38. A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
  39. Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
  40. Marine-Lenhart syndrome in a young girl
  41. Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
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  43. Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
  44. Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
  45. Vitamin D and the heart: what is the truth?
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