Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

European Journal of Pediatrics
Alejandro García CastañoRenalTube Group


Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height -1.9 ± 2.1 and Z-weight -2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration. Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heteroz...Continue Reading


May 28, 1992·Nature·M BirnbaumerW Rosenthal
Jan 1, 1988·American Journal of Medical Genetics·M KambourisM E Hodes
Mar 1, 1994·The Journal of Clinical Investigation·S SasakiK Nakajima
Feb 14, 1995·Proceedings of the National Academy of Sciences of the United States of America·S NielsenM A Knepper
Feb 1, 1997·The Journal of Clinical Endocrinology and Metabolism·Z HochbergN V Knoers
Nov 29, 1996·Molecular and Cellular Endocrinology·D WenkertA M Spiegel
Nov 5, 1997·The Journal of Clinical Endocrinology and Metabolism·Y NomuraA Morikawa
Apr 19, 2000·The Journal of Clinical Endocrinology and Metabolism·K PaselT Schöneberg
Feb 22, 2001·Annual Review of Physiology·J P Morello, D G Bichet
Jun 7, 2002·The Journal of Clinical Endocrinology and Metabolism·Shih-Hua LinYuh-Feng Lin
Dec 23, 2003·Best Practice & Research. Clinical Endocrinology & Metabolism·Joseph G Verbalis
Feb 1, 2006·Cleveland Clinic Journal of Medicine·Amgad N Makaryus, Samy I McFarlane
Feb 8, 2006·Annals of Internal Medicine·Jeff M SandsUNKNOWN American Physiological Society
Jul 11, 2006·American Journal of Physiology. Renal Physiology·Joris H RobbenPeter M T Deen
Jul 18, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Pamela CarrollBrian Francis Meyer
Dec 13, 2006·Quarterly Reviews of Biophysics·Tamir Gonen, Thomas Walz
Aug 8, 2008·Best Practice & Research. Clinical Anaesthesiology·Marc O MaybauerDaniel L Traber
Aug 30, 2008·Journal of Cellular Physiology·Elias SpanakisClaudia Gragnoli
Jul 10, 2009·Proceedings of the National Academy of Sciences of the United States of America·Joris H RobbenPeter M T Deen
Jan 1, 2009·Progress in Molecular Biology and Translational Science·Daniel G Bichet
May 13, 2010·Scandinavian Journal of Urology and Nephrology·Mia FaerchJohan Jendle

❮ Previous
Next ❯


Aug 28, 2016·The Journal of International Medical Research·Wei-Hong GuoMei Zhu
Feb 24, 2016·Indian Journal of Endocrinology and Metabolism·Sanjay KalraHarshad Malve
Jul 6, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Bahriye AtmisAli Anarat
Aug 4, 2018·Case Reports in Pediatrics·Noriko Namatame-OhtaToshihiro Tajima

❮ Previous
Next ❯

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.


Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.


Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.