Nephrogenic syndrome of inappropriate antidiuresis: Early diagnosis avoids severe hyponatremia complications.

CONCLUSIONS: We herein report a case of a genetic fluid balance disorder due to an activating mutation of AVPR2. NSIAD is an X-linked disease, first described in 2005 by Feldman et al., which involved severe recurrent hyponatremia. The very early diagnosis (at 7 weeks of life) and appropriate treatment with urea prevented seizures and cerebral damage due to severe recurrent hyponatremia. Clinicians should consider the diagnosis of NSIAD in infants with recurrent hyponatremia with hemodilution and low AVP serum level. Genetic analysis of the AVPR2 sequence on the X chromosome will confirm the diagnosis and, given the wide variability of clinical expression, sequencing of the family members should be done. PMID: 28583780 [PubMed - as supplied by publisher]
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research

Related Links:

Governor Greg Abbott’s actions sparked outrage from reproductive rights advocates in a state that recently passed another restrictive bill
Source: Reuters: Health - Category: Consumer Health News Source Type: news
This resource provides information on dealing with specific patient groups throughout the COVID-19 period, under the following headings: Learning disability and autism LGBT health Paediatrics and child health Pregnancy and sexual health Menopause
Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
UNISON’s virtual health conference closed with a trio of motions dedicated to the fight against discrimination within the NHS, as the health service moves forward after the pandemic. As a motion on “dismantling inequalities” during the recovery put it: “The NHS has an urgent and compelling duty to eliminate the stark inequalities that affect staff with protected characteristics – inequalities that were not caused by COVID but which have been magnified and exacerbated by it.” Naomi Byron of Homerton Hospital branch told conference that the experiences of some of her branch colleagues duri...
Source: UNISON meat hygiene - Category: Food Science Authors: Tags: Article News 2021 Virtual Health Conference Source Type: news
In this study, we describe a 5-year-old boy with a de novo novel nonsense variant inCSNK2A1, NM_001895.3:c.319C#x3e;T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
Jewel Pfaffroth could barely move while she pumped. She had struggled since her son was born in April to produce breast milk—he was underweight at his first doctor’s appointment, and she immediately had to supplement with formula. Her doctor had recommended she sit at specific angles while she pumped—“to let gravity do its thing”—but those positions caused her such intense backaches that she couldn’t do basic things like carrying her baby. Yet despite the debilitating pain, she was pumping twice a day to create less than one-tenth of what her son ate. It was crucial to her that he ...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized COVID-19 nationpod Source Type: news
This study aimed to determine the relationship between domestic violence against women, adaptation to pregnancy, and maternal-fetal antenatal attachment. DESIGN AND METHODS: The study consisted of 385 pregnant women who were referred to the antena...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
CONCLUSIONS: This integrated safety analysis provides relevant information for clinicians treating patients with psoriasis, PsA, or axSpA with ixekizumab. No new safety signals were identified in patients receiving ixekizumab.PMID:34547967 | DOI:10.1080/09546634.2021.1976375
Source: Journal of Dermatological Treatment - Category: Dermatology Authors: Source Type: research
CONCLUSION: HEY1 is a candidate gene for both neurological and cardiac features of the 8q21.11 microdeletion syndrome and might, therefore, explain specific components of its pathophysiology.PMID:34549899 | DOI:10.1002/mgg3.1811
Source: Molecular Medicine - Category: Molecular Biology Authors: Source Type: research
Conclusion and Recommendations In this review we attempt to summarize current knowledge about the HD mutation and how information about CAG repeats in the HTT gene can be used to provide sound genetic counseling, which can possibly extend to other neurodegenerative diseases (44). By involving families in observational (i.e., ENROLL-HD platform) and interventional trials, clinicians have an opportunity to include adult patients and their relatives (e.g., partners, symptomatic minors, premanifest adults) in research-based networks that provide current knowledge about developments in genetic testing and novel therapies in HD...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
People traveling to Central America and South America, as well as some islands in the Caribbean, should take special precautions against mosquito bites because of an outbreak of Zika virus, a previously rare disease that may be linked to serious birth defects. Pregnant women should consider avoiding the region, the U.S. Centers for Disease Control and Prevention advised. The CDC on Friday issued a "Level 2" travel notice for Brazil, Colombia, El Salvador, French Guiana, Guatemala, Honduras, Martinique, Mexico, Panama, Paraguay, Suriname, Venezuela and Puerto Rico, as well as the Caribbean islands Haiti and M...
Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news
More News: Breastfed | Disability | Genetics | Girls | Hormones | Laboratory Medicine | Pediatrics | Pregnancy | Rare Diseases | Urology & Nephrology