記述言語：英語   掲載種別：研究論文（学術雑誌）  

Periodic fever syndrome is diagnosed on the basis of duration of fever, associated symptoms, and blood and genetic test results. During a 6-month period, a 3-year-old girl experienced monthly fever (39°C) episodes persisting 5 to 12 days and two episodes of ankle arthralgia and skin rash during fever. No abdominal or chest pain was noted. Blood tests performed at the time of fever revealed elevated CRP levels and blood sedimentation rates. Urinalysis and bone marrow examination results were unremarkable. Genetic testing for hereditary autoinflammatory disease syndromes showed E84K MEFV gene mutations. After diagnosing atypical familial Mediterranean fever, oral colchicine alleviated the febrile attacks and improved family quality of life. Fever, arthralgia, and skin rash disappeared after oral colchicine, which is effective for atypical familial Mediterranean fever. During the 6 months before the diagnosis, periodic fever disrupted the daily lives of the entire family. The patient was absent from nursery school during fever. The patient's illness affected her mother's health. The mother was concerned about her child's unknown fever, which resulted in depression and the need for psychiatric medication. Colchicine resolved the febrile episodes, and resolution of the patient's symptoms alleviated her mother's depression. This case shows that genetic testing for periodic fever syndrome can improve family quality of life.

DOI： 10.1272/jnms.JNMS.2025_92-610

PubMed

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掲載種別：研究論文（学術雑誌）   出版者・発行元：Wiley  

Abstract

Background

Serum alkaline phosphatase (ALP), a biomarker of bone and liver metabolism, is often elevated in children; however, the lower reference limit is rarely considered. Hypophosphatasia (HPP) is characterized by low ALP levels and impaired mineralization of bone and teeth. Although enzyme replacement therapy is available, mild forms are diagnosed late owing to subtle symptoms and ALP levels falling within the adult reference range. In Japan, ALP analysis methods were updated in 2020 and now require value conversion. Pediatricians unfamiliar with these standards may overlook low ALP levels. We investigated whether the disease distribution varies by age and identified key features critical for diagnosis.

Methods

We analyzed serum ALP levels of patients aged <18 years who visited three Nippon Medical School hospitals between January 2020 and December 2022. The inclusion criteria were ALP levels within the adult reference range but below age‐ and sex‐specific pediatric norms. Patient age, sex, and medical history were recorded.

Results

Among 16,125 ALP measurements from 5513 individuals, 239 cases (132 males and 107 females) met the inclusion criteria. In neonates, preterm birth or low birth weight was common, and 55.6% of the infants had infections. School‐age children frequently present with a history of corticosteroid use, while adolescents often exhibit signs of malnutrition or chronic diarrhea. One patient had a prior HPP diagnosis, and two were newly diagnosed.

Conclusions

Our findings underscore the importance of recognizing low ALP levels in pediatric patients and maintaining a high index of suspicion for HPP and other treatable conditions.

DOI： 10.1111/ped.70260

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記述言語：日本語   出版者・発行元：日本医科大学医学会  

症例は生来健康な8歳男児で、激しい腹痛を主訴とした。血液検査、尿検査、腹部X線、腹部超音波、腹部造影CT各所見より、交差血管による左腎右尿管移行部狭窄症および、それに伴う間欠性水腎症と診断し、絶飲食で維持輸液、鎮痛薬を投与し第3病日に退院した。退院2ヵ月後に左腎優位に排泄遅延を認め、発症8ヵ月にロボット支援下腹腔鏡下左腎盂形成術を行い、術後6ヵ月時で再燃は認めない。本例のように初回の腹痛発作で間欠性水腎症の診断に至った例は極めて稀で、尿検査で潜血を認めたことより腎疾患を疑い、超音波検査、腹部超音波検査により早期診断ができた。

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その他リンク： https://search.jamas.or.jp/default/link?pub_year=2024&ichushi_jid=J04260&link_issn=&doc_id=20240603420008&doc_link_id=%2Fcw1nimed%2F2024%2F002002%2F015%2F0126-0129%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcw1nimed%2F2024%2F002002%2F015%2F0126-0129%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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J-GLOBAL

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