Long-term outcome in inherited nephrogenic diabetes insipidus.
AQP2
AVPR2
congenital nephrogenic diabetes insipidus
hypernatraemia
polyuria
Journal
Clinical kidney journal
ISSN: 2048-8505
Titre abrégé: Clin Kidney J
Pays: England
ID NLM: 101579321
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
04
12
2017
entrez:
13
4
2019
pubmed:
13
4
2019
medline:
13
4
2019
Statut:
epublish
Résumé
Inherited nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by impaired urinary concentrating ability. Little clinical data on long-term outcome exists. This was a single-centre retrospective medical record review of patients with a diagnosis of NDI followed between 1985 and 2017. We collected available data on growth, weight, school performance, complications and comorbidities. We identified 36 patients with available data and a clinical diagnosis of NDI, which was genetically confirmed in 33 of them. Patients presented at a median age of 0.6 years and median length of follow-up was 9.5 years. Chief symptoms at presentation were faltering growth, vomiting/feeding concerns, polyuria/polydipsia, febrile illness and hypernatraemic dehydration. Median weight standard deviation scores (SDS) improved from -2.1 at presentation to 0.2 at last follow-up. In contrast, height SDS remained essentially unchanged at -1.1 at presentation and -0.9 at last follow-up. Most patients were treated with prostaglandin synthesis inhibitors and thiazides, yet weaned off during school age without an obvious change in urine output. Median estimated glomerular filtration rate at last follow-up was 81 mL/min/1.73 m The overall prognosis in inherited NDI is favourable with regular treatment. As expected, most complications were related to polyuria. There is an apparent loss of efficacy of medications during school age. Our data inform the prognosis and management of patients with NDI.
Sections du résumé
BACKGROUND
BACKGROUND
Inherited nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by impaired urinary concentrating ability. Little clinical data on long-term outcome exists.
METHOD
METHODS
This was a single-centre retrospective medical record review of patients with a diagnosis of NDI followed between 1985 and 2017. We collected available data on growth, weight, school performance, complications and comorbidities.
RESULTS
RESULTS
We identified 36 patients with available data and a clinical diagnosis of NDI, which was genetically confirmed in 33 of them. Patients presented at a median age of 0.6 years and median length of follow-up was 9.5 years. Chief symptoms at presentation were faltering growth, vomiting/feeding concerns, polyuria/polydipsia, febrile illness and hypernatraemic dehydration. Median weight standard deviation scores (SDS) improved from -2.1 at presentation to 0.2 at last follow-up. In contrast, height SDS remained essentially unchanged at -1.1 at presentation and -0.9 at last follow-up. Most patients were treated with prostaglandin synthesis inhibitors and thiazides, yet weaned off during school age without an obvious change in urine output. Median estimated glomerular filtration rate at last follow-up was 81 mL/min/1.73 m
CONCLUSION
CONCLUSIONS
The overall prognosis in inherited NDI is favourable with regular treatment. As expected, most complications were related to polyuria. There is an apparent loss of efficacy of medications during school age. Our data inform the prognosis and management of patients with NDI.
Identifiants
pubmed: 30976394
doi: 10.1093/ckj/sfy027
pii: sfy027
pmc: PMC6452213
doi:
Types de publication
Journal Article
Langues
eng
Pagination
180-187Commentaires et corrections
Type : ErratumIn
Références
J Am Soc Nephrol. 1999 Sep;10(9):1958-64
pubmed: 10477148
Pediatr Nephrol. 2003 Oct;18(10):1073-6
pubmed: 12883974
Acta Psychiatr Neurol Scand. 1955;30(4):577-87
pubmed: 13301914
Pediatrics. 1958 Mar;21(3):430-5
pubmed: 13542087
Pediatr Nephrol. 2007 Jul;22(7):1014-20
pubmed: 17380351
Am J Physiol Renal Physiol. 2008 Oct;295(4):F1177-90
pubmed: 18715941
Nephron Physiol. 2010;114(1):p1-10
pubmed: 19816050
Kidney Int. 2010 Feb;77(4):285-91
pubmed: 20010545
Nephron Physiol. 2010;116(4):p23-9
pubmed: 20733335
Pediatr Nephrol. 2011 Nov;26(11):1977-8, 1979-80
pubmed: 21301887
Am J Physiol Renal Physiol. 2013 Apr 15;304(8):F1037-42
pubmed: 23364801
Ann N Y Acad Sci. 1990;579:215-26
pubmed: 2337293
Arch Dis Child. 1990 Aug;65(8):885-7
pubmed: 2400228
Clin Kidney J. 2012 Jun;5(3):195-202
pubmed: 26069764
Nat Rev Nephrol. 2015 Oct;11(10):576-88
pubmed: 26077742
Best Pract Res Clin Endocrinol Metab. 2016 Mar;30(2):263-76
pubmed: 27156763
Curr Opin Pediatr. 2017 Apr;29(2):199-205
pubmed: 28134709
N Engl J Med. 1988 Apr 7;318(14):881-7
pubmed: 2965301
Clin Sci (Lond). 1984 Jun;66(6):709-15
pubmed: 6723207
Front Neuroendocrinol. 1993 Oct;14(4):251-302
pubmed: 8258377
Am J Med Genet. 1996 Jan 2;61(1):81-8
pubmed: 8741926