A case of long-term survival of SADDAN treated with growth hormone for marked short stature.

IF 1 Q4 ENDOCRINOLOGY & METABOLISM
Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-03-10 DOI:10.1297/cpe.2023-0068
Junko Kanno, Yu Katata, Sayaka Kawashima, Hirohito Shima, Chisumi Sogi, Ikumi Umeki, Dai Suzuki, Hasumi Tomita, Miki Kamimura, Akiko Saito-Hakoda, Ikuma Fujiwara, Takushi Hanita, Atsuo Kikuchi
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引用次数: 0

Abstract

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a bone dysplasia caused by a pathogenic variant of fibroblast growth factor receptor 3 (FGFR3). Pathogenic variants in FGFR3 also cause thanatophoric dysplasia (TD) and achondroplasia. Although the findings of SADDAN and TD during the fetal and neonatal periods are similar, they differ in their long-term prognoses. We conducted FGFR3 analysis in one male patient because of the difficulty in differentiating SADDAN from TD during the neonatal period. We found that the patient had a pathogenic variant, p. Lys650Met, which was similar to that previously reported in patients with SADDAN. Reports on long-term survival in patient with SADDAN are scarce, and there have been no reports of treatment with GH. We administered GH therapy for a markedly short stature. After treatment, his height increased by 4 cm each year for 4 years, the frequency of hospitalizations due to respiratory failure decreased, and the health improved. FGFR3 analysis is useful for diagnosing SADDAN during the early neonatal period. GH therapy may have contributed to the patient's long-term survival.

一例因明显矮小而接受生长激素治疗的 SADDAN 长期存活病例。
严重软骨发育不良伴发育迟缓和黑棘皮症(SADDAN)是由成纤维细胞生长因子受体 3(FGFR3)的致病变体引起的骨发育不良。成纤维细胞生长因子受体 3 的致病变体还可导致比眼发育不良(TD)和软骨发育不良。虽然 SADDAN 和 TD 在胎儿期和新生儿期的结果相似,但它们的长期预后却不同。由于在新生儿期难以区分 SADDAN 和 TD,我们对一名男性患者进行了表皮生长因子受体 3(FGFR3)分析。我们发现该患者有一个致病变体,p. Lys650Met,与之前报道的 SADDAN 患者的致病变体相似。有关 SADDAN 患者长期存活的报道很少,也没有使用 GH 治疗的报道。我们对身材明显矮小的患者进行了 GH 治疗。治疗后,他的身高在 4 年时间里每年增加 4 厘米,因呼吸衰竭住院的次数减少,健康状况得到改善。FGFR3 分析有助于在新生儿早期诊断 SADDAN。GH 治疗可能有助于患者的长期存活。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.40
自引率
7.10%
发文量
34
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