Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 9-month-old male Latino infant with congenital nephrogenic diabetes insipidus (NDI) who presented with hypernatremic dehydration aggravated by severe gastroenteritis. Initially, the infant was managed with intravenous fluids followed by standard 20 cal/ounce formula and pharmacological therapy, resulting in normalization of his serum sodium level. While hydrochlorothiazide therapy alone or in combination with prostaglandin inhibitors or amiloride has been successful in children and adolescents, this is the first report of the successful use of hydrochlorothiazide and amiloride in an infant with congenital NDI.
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PMID:Successful treatment with hydrochlorothiazide and amiloride in an infant with congenital nephrogenic diabetes insipidus. 825 21

Elevated levels of sodium that may be detected in the analysis of post-mortem fluid samples may arise from a wide variety of organic illnesses and environmental factors that have caused either water depletion or solute gain. When hypernatraemia is suspected at autopsy a careful history is required with particular emphasis on pre-existing medical conditions such as renal or gastrointestinal disease. In addition, detailed information is required on the circumstances of death, including any clinical symptoms and signs that the deceased may have manifested, or medical procedures such as dialysis, colonoscopy or intravenous fluid replacement. Reduced intake of fluid may be associated with cognitive or physical impairment or may result from environmental depletion (the latter may be a manifestation of inflicted injury). Both central and nephrogenic diabetes insipidus may result in the loss of excessive amounts of hypotonic fluid. This may also occur following diuretic use, or be due to gastroenteritis or burns. Hypernatraemia may be a marker of excessive salt/saline ingestion and/or administration and may occur accidentally or as a manifestation of child abuse. Given the range of possible etiologies, hypernatraemia may be a significant autopsy finding that requires explanation.
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PMID:The potential significance of elevated vitreous sodium levels at autopsy. 1978 11

Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVPR2) gene is possible in at-risk newborns with a known family history of X-linked CNDI. In this study, a Swedish male with no family history was diagnosed with CNDI at 6 months of age during an episode of gastroenteritis. We analyzed the coding regions of AVPR2 by PCR and direct DNA sequencing and identified an 80-bp duplication in exon 2 (GenBank NM_000054.4; c.800_879dup) in the proband. This variant leads to a frameshift and introduces a stop codon four codons downstream (p.Ala294Profs*4). The variant gene product either succumbs to nonsense-mediated decay or is translated to a truncated nonfunctional vasopressin V2 receptor. This variant was absent in four unaffected family members, including his parents, as well as in 100 alleles from healthy controls, and is thus considered a novel de novo disease-causing variant. Identification of the disease-causing variant facilitated precise diagnosis of CNDI in the proband. Furthermore, it allows future genetic counseling in the family. This case study highlights the importance of genetic testing in sporadic infant cases with CNDI that can occur due to de novo variants in AVPR2 or several generations of female transmission of the disease-causing variant.
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PMID:Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus. 2917 55

Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney. This case report describes a 15-year-old female diagnosed with NDI after an acute gastroenteritis and multiple fluid boluses leading to intractable emesis. Gene testing reveals our patient is compound heterozygous for novel AQP2 gene mutations with a cytosine-to-thymine substitution at nucleotide position 277 and adenine-to-cytosine substitution at nucleotide position 659. Therefore, we report a novel AQP2 gene mutation in an adolescent patient which is outside the common age for diagnosis.
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PMID:Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation. 3134 62