ArticleClinical kidney journal2012
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Article in Clinical kidney journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Aquaporin membrane channels in the hepatobiliary tract: a model of complexity and clinical implications in health and disease.Internal and emergency medicine · 2026Review
- Aquaporins in Diabetes Insipidus.Advances in experimental medicine and biology · 2023Article
- Human Aquaporins: Functional Diversity and Potential Roles in Infectious and Non-infectious Diseases.Frontiers in genetics · 2021Review
- Review
- Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.Cellular and molecular life sciences : CMLS · 2020Article
- Harmonizing Experimental Data with Modeling to Predict Membrane Protein Insertion in Yeast.Biophysical journal · 2019Article
- Long-term outcome in inherited nephrogenic diabetes insipidus.Clinical kidney journal · 2019Article
- Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.Molecular genetics & genomic medicine · 2019Article
- Review
- Plant and Mammal Aquaporins: Same but Different.International journal of molecular sciences · 2018Review
- Effect of Glycyrrhiza on the Diuretic Function of Euphorbia kansui: An Ascites Mouse Model.Evidence-based complementary and alternative medicine : eCAM · 2016Article
- Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.Nature reviews. Nephrology · 2015Review
- A farewell editorial from the Clinical Kidney Journal's former Editor-in-Chief.Clinical kidney journal · 2014Article
- Function of the membrane water channel aquaporin-5 in the salivary gland.Acta histochemica et cytochemica · 2012Article
- Development and Diseases of the Collecting Duct System.Results and problems in cell differentiationReview
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is clinically useful to distinguish between two types of hereditary nephrogenic diabetes insipidus (NDI): a 'pure' type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients with congenital NDI bearing mutations in the vasopressin 2 receptor gene, AVPR2, or in the aquaporin-2 gene, AQP2, have a pure NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride and calcium. Patients with hereditary hypokalemic salt-losing tubulopathies have a complex phenotype with loss of water and ions. They have polyhydramnios, hypercalciuria and hypo- or isosthenuria and were found to bear KCNJ1 (ROMK) and SLC12A1 (NKCC2) mutations. Patients with polyhydramnios, profound polyuria, hyponatremia, hypochloremia, metabolic alkalosis and sensorineural deafness were found to bear BSND mutations. These clinical phenotypes demonstrate the critical importance of the proteins ROMK, NKCC2 and Barttin to transfer NaCl in the medullary interstitium and thereby to generate, together with urea, a hypertonic milieu. This editorial describes two new developments: (i) the genomic information provided by the sequencing of the AQP2 gene is key to the routine care of these patients, and, as in other genetic diseases, reduces health costs and provides psychological benefits to patients and families and (ii) the expression of AQP2 mutants in Xenopus oocytes and in polarized renal tubular cells recapitulates the clinical phenotypes and reveals a continuum from severe loss of function with urinary osmolalities <150 mOsm/kg H2O to milder defects with urine osmolalities >200 mOsm/kg H2O.
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