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Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency
Newborn screening (NBS) can detect 21-hydroxylase deficiency (21-OHD), allowing for early treatment initiation. However, many patients present with adrenal crises or hyponatremia at their first visit. Age (in days) of hyponatremia development in infants with salt-wasting (SW)-type 21-OHD remains unc...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Japanese Society for Pediatric Endocrinology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348630/ https://www.ncbi.nlm.nih.gov/pubmed/32694886 http://dx.doi.org/10.1297/cpe.29.105 |
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author | Shima, Rohi Sawano, Kentaro Shibata, Nao Nyuzuki, Hiromi Sasaki, Sunao Sato, Hidetoshi Ogawa, Yohei Abe, Yuki Nagasaki, Keisuke Saitoh, Akihiko |
author_facet | Shima, Rohi Sawano, Kentaro Shibata, Nao Nyuzuki, Hiromi Sasaki, Sunao Sato, Hidetoshi Ogawa, Yohei Abe, Yuki Nagasaki, Keisuke Saitoh, Akihiko |
author_sort | Shima, Rohi |
collection | PubMed |
description | Newborn screening (NBS) can detect 21-hydroxylase deficiency (21-OHD), allowing for early treatment initiation. However, many patients present with adrenal crises or hyponatremia at their first visit. Age (in days) of hyponatremia development in infants with salt-wasting (SW)-type 21-OHD remains unclear. Therefore, we determined the earliest age of hyponatremia diagnosis in this retrospective observational study using medical records of 40 patients with classic 21-OHD in Niigata Prefecture, Japan, from April 1989 to March 2019. We determined the earliest diagnosis of hyponatremia (serum sodium levels < 130 mEq/L) and created a sodium decrease rate model to estimate hyponatremia development age. Of 23 patients with SW-type 21-OHD, 10 (43.5%) were identified during NBS; the earliest case to present with hyponatremia was at day 7. Serum sodium levels were significantly and negatively correlated with age in days, and hyponatremia was estimated to develop at 6.6 d after birth. Genotype or serum 17-hydroxyprogesterone levels were not associated with sodium decrease rate. Thus, hyponatremia development age is earlier (within 7 d) than the previously described time-point (10–14 d) in infants with SW-type 21-OHD. Efforts to reduce the time lag from obtaining results to consultation may be required in patients with high 17-hydroxyprogesterone levels on NBS. |
format | Online Article Text |
id | pubmed-7348630 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The Japanese Society for Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-73486302020-07-20 Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency Shima, Rohi Sawano, Kentaro Shibata, Nao Nyuzuki, Hiromi Sasaki, Sunao Sato, Hidetoshi Ogawa, Yohei Abe, Yuki Nagasaki, Keisuke Saitoh, Akihiko Clin Pediatr Endocrinol Original Article Newborn screening (NBS) can detect 21-hydroxylase deficiency (21-OHD), allowing for early treatment initiation. However, many patients present with adrenal crises or hyponatremia at their first visit. Age (in days) of hyponatremia development in infants with salt-wasting (SW)-type 21-OHD remains unclear. Therefore, we determined the earliest age of hyponatremia diagnosis in this retrospective observational study using medical records of 40 patients with classic 21-OHD in Niigata Prefecture, Japan, from April 1989 to March 2019. We determined the earliest diagnosis of hyponatremia (serum sodium levels < 130 mEq/L) and created a sodium decrease rate model to estimate hyponatremia development age. Of 23 patients with SW-type 21-OHD, 10 (43.5%) were identified during NBS; the earliest case to present with hyponatremia was at day 7. Serum sodium levels were significantly and negatively correlated with age in days, and hyponatremia was estimated to develop at 6.6 d after birth. Genotype or serum 17-hydroxyprogesterone levels were not associated with sodium decrease rate. Thus, hyponatremia development age is earlier (within 7 d) than the previously described time-point (10–14 d) in infants with SW-type 21-OHD. Efforts to reduce the time lag from obtaining results to consultation may be required in patients with high 17-hydroxyprogesterone levels on NBS. The Japanese Society for Pediatric Endocrinology 2020-07-11 2020 /pmc/articles/PMC7348630/ /pubmed/32694886 http://dx.doi.org/10.1297/cpe.29.105 Text en 2020©The Japanese Society for Pediatric Endocrinology This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Original Article Shima, Rohi Sawano, Kentaro Shibata, Nao Nyuzuki, Hiromi Sasaki, Sunao Sato, Hidetoshi Ogawa, Yohei Abe, Yuki Nagasaki, Keisuke Saitoh, Akihiko Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency |
title | Timing of hyponatremia development in patients with salt-wasting-type
21-hydroxylase deficiency |
title_full | Timing of hyponatremia development in patients with salt-wasting-type
21-hydroxylase deficiency |
title_fullStr | Timing of hyponatremia development in patients with salt-wasting-type
21-hydroxylase deficiency |
title_full_unstemmed | Timing of hyponatremia development in patients with salt-wasting-type
21-hydroxylase deficiency |
title_short | Timing of hyponatremia development in patients with salt-wasting-type
21-hydroxylase deficiency |
title_sort | timing of hyponatremia development in patients with salt-wasting-type
21-hydroxylase deficiency |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348630/ https://www.ncbi.nlm.nih.gov/pubmed/32694886 http://dx.doi.org/10.1297/cpe.29.105 |
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