Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome. (Record no. 3889)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02015nam a22003257a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 181108s20182018 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2296-2360 |
| 024 ## - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.3389/fped.2018.00273 [doi] |
| 024 ## - OTHER STANDARD IDENTIFIER | |
| Standard number or code | PMC6193093 [pmc] |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| PMID | 30364227 |
| 245 ## - TITLE STATEMENT | |
| Title | Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome. |
| 251 ## - Source | |
| Source | Frontiers in Pediatrics. 6:273, 2018. |
| 252 ## - Abbreviated Source | |
| Abbreviated source | Front. pediatr.. 6:273, 2018. |
| 253 ## - Journal Name | |
| Journal name | Frontiers in pediatrics |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Year | 2018 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Manufacturer | FY2019 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] | |
| Publication status | epublish |
| 266 ## - Date added to catalog | |
| Date added to catalog | 2018-11-09 |
| 520 ## - SUMMARY, ETC. | |
| Abstract | Chromosome 1q21.1 deletion syndrome is associated with a wide variety of clinical features including mild to moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. We report an unusual case of a premature neonate with persistent hyponatremia, markedly elevated plasma arginine vasopressin level (32.7 pg/mL), and clinical findings consistent with the syndrome of inappropriate antidiuretic hormone secretion (SIADH). The patient, who also had microcephaly and dextrocardia, was subsequently diagnosed with chromosome 1q21.1 deletion syndrome. Further evaluation revealed hypothalamic abnormalities, features not previously described with this syndrome. To our knowledge, this is the first report of SIADH associated with congenital hypothalamic anomalies in a neonate with chromosome 1q21.1 deletion syndrome. We also report our experience using tolvaptan, a vasopressin receptor antagonist, in this patient to effectively maintain eunatremia. |
| 546 ## - LANGUAGE NOTE | |
| Language note | English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | IN PROCESS -- NOT YET INDEXED |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME | |
| Institution | MedStar Washington Hospital Center |
| 656 ## - INDEX TERM--OCCUPATION | |
| Department | Medicine/Internal Medicine |
| 657 ## - INDEX TERM--FUNCTION | |
| Medline publication type | Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Local Authors | Usala, Rachel |
| 790 ## - Authors | |
| All authors | Ahn SY, Alzarka B, Usala R, Whitehead MT |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| DOI | <a href="https://dx.doi.org/10.3389/fped.2018.00273">https://dx.doi.org/10.3389/fped.2018.00273</a> |
| Public note | https://dx.doi.org/10.3389/fped.2018.00273 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Journal Article |
| Item type description | Article |
| Withdrawn status | Lost status | Damaged status | Not for loan | Collection | Home library | Current library | Date acquired | Total Checkouts | Full call number | Barcode | Date last seen | Price effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MedStar Authors Catalog | MedStar Authors Catalog | 11/09/2018 | 30364227 | 30364227 | 11/09/2018 | 11/09/2018 | Journal Article |