|
THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
|
Vol.129, No.10, October 2025
|
Original Article
Title
Thalassemia Diagnosed at a Single Japanese Institution: Clinical Progress and Diagnostic Problems
Author
Yu Kato Yuki Arakawa Hiroshi Takada Yoshitaka Mizushima Itsuki Inamine Mamoru Honda Kagehiro Kouzuki Yuichi Mitani Makiko Mori Kohei Fukuoka Koichi Oshima and Katsuyoshi Koh
Department of Hematology / Oncology, Saitama Children's Medical Center
Abstract
Background: The number of suspected thalassemia cases in Japan continues to rise with globalization, especially due to the increasing number of immigrants from China and Southeast Asia. However, no clear clinical guidelines are available for the management of thalassemia in Japan.
Objective: This study aimed to examine the final diagnosis and clinical course of suspected thalassemia cases and identify challenges in diagnosis and follow-up care.
Methods: This study reviewed data on patients suspected to have thalassemia who underwent hemoglobinopathy evaluation at the Fukuyama Clinical Laboratory Center. Their clinical backgrounds, test results, and follow-up outcomes after diagnosis were analyzed.
Results: Between April 2013 and March 2024, 23 patients underwent hemoglobinopathy testing. Among them, 16 cases were genetically confirmed as those with thalassemia: 5 cases of α-thalassemia, 11 cases of β-thalassemia, including 2 cases with both α- and β-thalassemia. The median age of genetically diagnosed patients (n = 16) was 4 years. In non-severe thalassemia cases, RBC counts were elevated, whereas MCV, T-Bil, and Mentzer Index (MI) values were low. A notable proportion of patients had family members of foreign origin.
Conclusion: Diagnosing thalassemia and providing genetic counseling and disease education are crucial, even in mild or asymptomatic cases. Racial and language barriers complicate patient care. Strengthening a consistent system from diagnosis to follow-up care, including diagnostic tests in insurance coverage, should be prioritized.
|
|
Original Article
Title
Effectiveness of Inpatient Treatment for Pediatric Obesity at Our Institution
Author
Mika Makimura Miwa Furuzono and Kenichi Miyako
Department of Endocrinology and Metabolism, Fukuoka Children's Hospital
Abstract
This study evaluated the effectiveness of inpatient treatment for pediatric obesity at our institution. We retrospectively analyzed 38 cases involving 34 children aged 6-16 years, hospitalized for simple obesity between November 2014 and December 2021. Changes in the degree of obesity, laboratory parameters, and the influence of background factors (school refusal, family history of obesity, and single-parent household) were assessed from admission to 1 year after discharge. The mean age at admission was 12 years, and the average hospital stay was 21 days. School refusal was observed in 26% of patients, and 80% had a family history of obesity. The median degree of obesity significantly decreased from 56.9% at admission to 51.2% at discharge, regardless of background factors. Significant improvements in lipid and glucose metabolism markers were observed at discharge, with total and non-high-density lipoprotein cholesterol levels remaining improved at the 1-year follow-up. Liver function also showed significant improvement 1-year post-discharge. Notably, patients who showed increased obesity index within 1 month after discharge were likely to maintain this trend, suggesting that early post-discharge obesity index gain may predict long-term outcomes. In conclusion, inpatient treatment effectively reduced the severity of obesity and improved metabolic profiles in most cases. However, children with school refusal or a family history of obesity may be at greater risk of regaining weight after discharge, highlighting the need for enhanced post-discharge follow-up in these populations.
|
|
Case Report
Title
A Case of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Diagnosed by Rickets
Author
Takuma Ando1)2) Kensei Gotoh1) Yohei Ikezumi2) Kandai Nozu3) Hiroki Takao1)2) Koji Takemoto1) Naoko Nishimura1) and Takao Ozaki1)
1)Department of Pediatrics, Konan Kosei Hospital
2)Department of Pediatrics, Fujita Health University
3)Department of Pediatrics, Kobe University Graduate School of Medicine
Abstract
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an extremely rare autosomal recessive disorder characterized by hypomagnesemia.
This study aims to report a case of a 2-year-old girl with no relevant family history who was admitted due to febrile seizures. During her hospital stay, she was noted to have a short stature, genu valgum, hypocalcemia, elevated ALP, rachitic rosary, and metaphyseal cupping. Based on these findings, the etiology of rickets was evaluated. The laboratory results revealed low levels of 25(OH)D, elevated intact PTH, hypomagnesemia, hypermagnesuria, hypercalciuria, and bilateral nephrocalcinosis. The blood pH and other blood electrolytes were within normal limits. The results of the genetic analysis confirmed FHHNC with compound heterozygous mutations in the CLDN16 gene. Treatment was initiated with magnesium sulfate, thiazide diuretics, and active vitamin D. Following treatment, the signs of rickets and hypocalcemia had resolved, and improvement in growth was observed. However, at age 6, the patient still exhibited persistent hypermagnesuria and hypercalciuria, along with progressive renal impairment. The hypocalcemia and rickets observed in this case were likely attributable to secondary hyperparathyroidism resulting from FHHNC, compounded by coexisting vitamin D deficiency. Incorporating assessment of nephrocalcinosis and serum magnesium levels is essential for an accurate diagnosis and appropriate management, even when vitamin D deficiency rickets is presumed.
|
|
Case Report
Title
Orchiectomy for Pediatric Testicular Abscess Caused by Pseudomonas aeruginosa
Author
Haruki Nagano1) Hideki Ban2)3) Akio Furuse1) Kazuhiko Yoshimoto4) and Katsuki Hirai1)
1)Department of Pediatrics, Japanese Red Cross Kumamoto Hospital
2)Department of Pediatric Nephrology, Japanese Red Cross Kumamoto Hospital
3)Department of Pediatric Nephrology, Tokyo Women's Medical University
4)Department of Pediatric Surgery, Japanese Red Cross Kumamoto Hospital
Abstract
Epididymitis, a common acute scrotal disease in children, has a favorable prognosis when medically treated. Although Pseudomonas aeruginosa (P. aeruginosa) associated epididymitis has been reported in adults, pediatric cases remain rare. This report describes an 11-year-old boy with no prior medical history who displayed fever, right scrotal swelling, and scrotal pain. Ultrasound confirmed epididymitis and orchitis; some lesions had progressed to testicular abscesses. P. aeruginosa was identified in urine and blood cultures, prompting a switch from empiric therapy with cefmetazole and ampicillin to ceftazidime 1 day after admission. Since the local symptoms did not improve sufficiently, right orchiectomy was warranted. The postoperative course was uneventful; the patient was discharged 2 days later.
A review of 19 cases, including published cases of P. aeruginosa-associated epididymitis and orchitis, the present case, revealed that 47% required orchiectomy. Complications such as acute respiratory distress syndrome and fatal septic shock were also reported. In the present case, identification of P. aeruginosa from urine and blood cultures enabled appropriate antimicrobial selection. Previous reports indicate that approximately 30% of epididymitis, orchitis, and testicular abscess cases yield negative urine cultures, hindering bacterial identification. Among the 19 cases reviewed, 42% of P. aeruginosa cases were identified only through pus cultures.
Although epididymitis and orchitis typically have a favorable prognosis, severe P. aeruginosa infections and cases requiring orchiectomy have been reported. Causative organism identification in urine and blood cultures is crucial for appropriate antimicrobial selection. Urine cultures may be negative, so caution is needed as some cases are identified only by local cultures.
|
|
|
Back number
|
|
