From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus
-
Bahriye Atmis
,
Aysun Karabay Bayazit
Abstract
Objectives
Congenital nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder which is characterized by unresponsiveness to arginine vasopressin (AVP) in collecting ducts and leads to polyuria and polydipsia. The wide clinical spectrum of congenital NDI can cause difficulties in early diagnosis. We aimed to evaluate clinical prognosis of children with congenital NDI in long-term period.
Methods
Nineteen children with congenital NDI followed up in Pediatric Nephrology Department were enrolled to the study. This study is a single-center retrospective study, which reports clinical follow-up and genetic results of children with congenital NDI.
Results
Presenting symptoms of patients were mostly dehydration and fever due to polyuria and polydipsia. Four male patients had bilateral nonobstructive hydroureteronephrosis (HUN) and neurogenic bladder which requires clean intermittent catheterization (CIC). One patient had intracranial calcification which is a rarely seen complication in congenital NDI due to recurrent hypernatremic dehydration and severe brain dehydration. The causative mutations were identified in all patients. The identified mutations in six of them (31.6%) were hemizygous mutations in AVPR2 gene and homozygous mutations of AQP2 gene in the rest 13 cases (68.4%). More than that, four of these mutations (two in AVPR2 and two in AQP2) were novel mutations. Noncompliance with the treatments is associated with high risk of morbidity due to neurogenic bladder and chronic kidney disease (CKD).
Conclusions
The prognosis of congenital NDI is good when diagnosis can be made early and treatment is started immediately. Genetic counseling and prenatal testing for hereditary diseases are recommended especially in regions with relatively higher rates of consanguineous marriages.
-
Research funding: None declared.
-
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
-
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
-
Informed consent: Informed consent was obtained from all individuals included in this study.
-
Ethical approval: This study was approved by the Ethical Committee of Medical Faculty of University (13.04.2018-76/5).
References
1. Knoers, VAMN, Levtchenko, EN. Nephrogenic diabetes insipidus in children. In: Avner, ED, Harmon, VE, Niaudet, P, Yoshikawa, N, Emma, F, Goldstein, SL, editors. Pediatric nephrology, 7th ed. Berlin Heidelberg: Springer-Verlag; 2016:1307–27.10.1007/978-3-662-43596-0_36Search in Google Scholar
2. Wesche, D, Deen, PM, Knoers, NV. Congenital nephrogenic diabetes insipidus: the current state of affairs. Pediatr Nephrol 2012;27:2183–204. https://doi.org/10.1007/s00467-012-2118-8.Search in Google Scholar
3. Bockenhauer, D, Bichet, DG. Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nat Rev Nephrol 2015;11:576–88. https://doi.org/10.1038/nrneph.2015.89.Search in Google Scholar
4. Uribarri, J, Kaskas, M. Hereditary nephrogenic diabetes insipidus and bilateral nonobstructive hydronephrosis. Nephron 1993;65:346–9. https://doi.org/10.1159/000187510.Search in Google Scholar
5. Linshaw, MA. Back to basics: congenital nephrogenic diabetes insipidus. Pediatr Rev 2007;28:372–80. https://doi.org/10.1542/pir.28-10-372.Search in Google Scholar
6. Bichet, DG, Bockenhauer, D. Genetic forms of nephrogenic diabetes insipidus (NDI): vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Best Pract Res Clin Endocrinol Metabol 2016;30:263–76. https://doi.org/10.1016/j.beem.2016.02.010.Search in Google Scholar
7. Milano, S, Carmosino, M, Gerbino, A, Svelto, M, Procino, G, 2017. Hereditary nephrogenic diabetes insipidus: pathophysiology and possible treatment. An update. Int J Mol Sci 18, 2385. https://doi.org/10.3390/ijms18112385.10.3390/ijms18112385Search in Google Scholar PubMed PubMed Central
8. Schwartz, GJ, Muñoz, A, Schneider, MF, Mak, RH, Kaskel, F, Warady, BA, et al. New equations to estimate GFR in children with CKD. J Am Soc Nephrol 2009;20:629–37. https://doi.org/10.1681/asn.2008030287.Search in Google Scholar
9. Fujimoto, M, Okada, S, Kawashima, Y, Nishimura, R, Miyahara, N, Kawaba, Y, et al., 2014. Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan. Yonago Acta Med 57, 85–91. PMID: 25324589 .Search in Google Scholar PubMed
10. Van Lieburg, AF, Knoers, NV, Monnens, LA, 1999. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 10, 1958–64. PMID: 10477148 .10.1681/ASN.V1091958Search in Google Scholar PubMed
11. Lejarraga, H, Caletti, MG, Caino, S, Jiménez, A. Long-term growth of children with nephrogenic diabetes insipidus. Pediatr Nephrol 2008;23:2007–12. https://doi.org/10.1007/s00467-008-0844-8.Search in Google Scholar
12. Bockenhauer, D, Bichet, DG. Nephrogenic diabetes insipidus. Curr Opin Pediatr 2017;29:199–205. https://doi.org/10.1097/mop.0000000000000473.Search in Google Scholar
13. Yuksel, OH, Kivrak, M, Sahin, A, Akan, S, Urkmez, A, Verit, A. A case of idiopathic diabetes insipidus presented with bilateral hydroureteronephrosis and neurogenic bladder: a pediatric case report and literature review. Can Urol Assoc J 2015;9:E817–20. https://doi.org/10.5489/cuaj.3092.Search in Google Scholar
14. Jin, XD, Chen, ZD, Cai, SL, Chen, SW. Nephrogenic diabetes insipidus with dilatation of bilateral renal pelvis, ureter and bladder. Scand J Urol Nephrol 2009;43:73–5. https://doi.org/10.1080/00365590802580208.Search in Google Scholar
15. Hong, CR, Kang, HG, Choi, HJ, Cho, MH, Lee, JW, Kang, JH, et al. X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study. J Pediatr Endocrinol Metabol. 2014;27:93–9. https://doi.org/10.1515/jpem-2013-0231.Search in Google Scholar
16. García Castaño, A, Pérez de Nanclares, G, Madariaga, L, Aguirre, M, Chocron, S, Madrid, A, et al. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study. Eur J Pediatr 2015;174:1373–85. https://doi.org/10.1007/s00431-015-2534-4.Search in Google Scholar
17. Sasaki, S, Chiga, M, Kikuchi, E, Rai, T, Uchida, S. Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2. Clin Exp Nephrol 2013;17:338–44. https://doi.org/10.1007/s10157-012-0726-z.Search in Google Scholar
18. Dabrowski, E, Kadakia, R, Zimmerman, D. Diabetes insipidus in infants and children. Best Pract Res Clin Endocrinol Metabol 2016;30:317–28. https://doi.org/10.1016/j.beem.2016.02.006.Search in Google Scholar
19. Ryu, HH, Chung, JH, Shin, BC, Kim, HL. Congenital nephrogenic diabetes insipidus with end-stage renal disease. Korean J Intern Med 2015;30:259–61. https://doi.org/10.3904/kjim.2015.30.2.259.Search in Google Scholar
20. Kim, HE, Han, HS, Kim, BC, Han, J, Park, SS, Kim, MO, et al. A case of autosomal dominant nephrogenic diabetes insipidus with renal failure. Korean J Nephrol 2004;23:965–9.Search in Google Scholar
© 2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review Article
- Pharmacological treatment strategies for patients with monogenic obesity
- Original Articles
- Influence of FTO (Fat mass and obesity) gene and parental obesity on Brazilian children and adolescents adiposity
- Developing waist circumference, waist-to-height ratio percentile curves for Pakistani children and adolescents aged 2–18 years using Lambda-Mu-Sigma (LMS) method
- Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg
- Relationship between breastfeeding and obesity in high school girls
- Saudi children with celiac disease: are they at risk of developing type-1 diabetes mellitus?
- The relation of serum endocan and soluble endoglin levels with metabolic control in children and adolescents with type 1 diabetes mellitus
- From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus
- Thyroid peroxidase antibodies are common in children with HLA-conferred susceptibility to type 1 diabetes, but are weakly associated with thyroid function
- Individualized dosimetry in children and young adults with differentiated thyroid cancer undergoing iodine-131 therapy
- Association study of DLK1 in girls with idiopathic central precocious puberty
- Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
- Fibroblast growth factor 23 and its role in phosphate homeostasis in growing children compared to adults
- Utility and duration of leuprolide stimulation testing in children
- Effect of an interval rehabilitation program with home-based, vibration-assisted training on the development of muscle and bone in children with cerebral palsy – an observational study
- Case Reports
- Metyrapone as treatment in the neonatal McCune–Albright syndrome
- Tumor-induced rickets-osteomalacia: an enigma
- Porto-systemic shunt – a rare cause of hyperandrogenism in children. Two case reports and review of literature
- Hypercalcemia from hypervitaminosis A in a child with autism
Articles in the same Issue
- Frontmatter
- Review Article
- Pharmacological treatment strategies for patients with monogenic obesity
- Original Articles
- Influence of FTO (Fat mass and obesity) gene and parental obesity on Brazilian children and adolescents adiposity
- Developing waist circumference, waist-to-height ratio percentile curves for Pakistani children and adolescents aged 2–18 years using Lambda-Mu-Sigma (LMS) method
- Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg
- Relationship between breastfeeding and obesity in high school girls
- Saudi children with celiac disease: are they at risk of developing type-1 diabetes mellitus?
- The relation of serum endocan and soluble endoglin levels with metabolic control in children and adolescents with type 1 diabetes mellitus
- From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus
- Thyroid peroxidase antibodies are common in children with HLA-conferred susceptibility to type 1 diabetes, but are weakly associated with thyroid function
- Individualized dosimetry in children and young adults with differentiated thyroid cancer undergoing iodine-131 therapy
- Association study of DLK1 in girls with idiopathic central precocious puberty
- Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
- Fibroblast growth factor 23 and its role in phosphate homeostasis in growing children compared to adults
- Utility and duration of leuprolide stimulation testing in children
- Effect of an interval rehabilitation program with home-based, vibration-assisted training on the development of muscle and bone in children with cerebral palsy – an observational study
- Case Reports
- Metyrapone as treatment in the neonatal McCune–Albright syndrome
- Tumor-induced rickets-osteomalacia: an enigma
- Porto-systemic shunt – a rare cause of hyperandrogenism in children. Two case reports and review of literature
- Hypercalcemia from hypervitaminosis A in a child with autism
