Continuity of care for children and adolescent patients with rare diseases poses a major global public health challenge. In China, rare disease management is plagued by a fragmented healthcare system and poorly coordinated policies, resulting in a significant gap in care during the transition from pediatric to adult services. This disruption often leaves patients without consistent access to effective treatment, reducing their quality of life. Moreover, rising loss-to-follow-up rates further threaten patient survival and well-being, undermining the development of rare disease research and clinical practice in the country. Addressing the transition from pediatric to adult care for rare diseases involves not only scientific hurdles but also systemic and structural barriers. Building on innovative approaches from specialized domestic hospitals and international best practices, this paper provides a systematic analysis of the key obstacles and transformational strategies needed to enable continuous care. We propose a multidimensional approach that integrates policy, technology, and clinical practice to establish a lifelong management system spanning "Screening - Intervention - Rehabilitation - Follow-up." This model aims to shift China’s rare disease management from a "passive continuation" approach to "Active Transition" strategy.

Objective To investigate the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) complicated by scoliosis. Methods A retrospective analysis was performed on the clinical data of SMA patients with scoliosis who regularly received nusinersen treatment at the Spinal Center of our hospital from January 2022 to June 2024. The data encompassed basic information, surgical history, imaging examinations, etc., collected from the electronic medical record system. During the follow-up period, three scales, namely the Revised Upper Limb Module (RULM) score, the Hammersmith Functional Motor Scale-Expanded (HFMSE), and the Spinal Muscular Atrophy Independence Measure-Upper Limb Module (SMAIS-ULM), were employed to assess the patients. The results of these assessments were compared with pre-treatment baseline data. Results A total of 22 SMA patients were included in the analysis. The median age was 13.2 (9.8-21.8) years, and nearly half of the patients (41%) were unable to sit independently. The median pre-treatment Cobb angle was 101.0 (42.3-121.3) degrees, and 17 of these patients (77.3%) underwent scoliosis correction surgery during follow-up period. The median follow-up duration was 22 (13-26) months. After treatment with nusinersen, the RULM scores of the patients were significantly improved (P<0.001). The motor function of 18 patients (81.8%) showed clinically meaningful improvement. Moreover, the SMAIS-ULM scores of both the patients and their caregivers also increased. During the treatment process, 13 patients (59.1%) reported adverse reactions such as dizziness, nausea, and pain at the site of intrathecal injection. Additionally, 2 patients presented with diarrhea and alopecia. Conclusions Nusinersen has been shown to improve upper limb motor function in SMA patients complicated by scoliosis and enhance their independence in daily activities. This effect appears to be independent of surgical intervention and is associated with a favorable safety profile.

Objective To analyze the clinical characteristics and genetic variations in 8 children with metachromatic leukodystrophy (MLD), and to explore the correlation between genotype and clinical phenotype as well as the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT). Methods The study collected data from children diagnosed between 2013 and 2024, confirmed through whole exome sequencing, and found that all children had symptoms such as developmental delay, with ages at diagnosis ranging from 1 year and 3 months to 9 years and 6 months. Results Based on the age of onset and clinical manifestations, 4 cases were late infantile type, with 2 deaths; 4 cases were juvenile type, with a survival rate of 100%. Genetic sequencing revealed compound heterozygous variations in the ARSA gene, a total of 15 mutations, of which 3 were newly reported and all were deleterious variations. Three children received allo-HSCT treatment and all survived but with progression of symptoms. Conclusion MLD mainly manifests as central nervous system damage, and diagnosis should be confirmed in combination with clinical manifestations, ARSA enzyme activity, and genetic testing. Early diagnosis and treatment are crucial for improving prognosis, and allo-HSCT can increase survival rates, but the therapeutic effect is limited.

Objective To evaluate the efficacy and safety of TNF-α antagonists in the treatment of chronic recurrent multifocal osteomyelitis (CRMO) in children. Methods The clinical data of 6 children with CRMO admitted to the hospital from June 2021 to May 2023 were retrospectively analyzed. Results A total of 6 children (4 boys and 2 girls) with CRMO were included. All of them had the onset of bone pain. The median age of onset was 9.5 (8-10) years, and the median age of diagnosis was 11 (10-12) years. The levels of C-reactive protein, interleukin-6 and erythrocyte sedimentation rate increased in 4 cases, antinuclear antibody was positive in 3 cases, and human leukocyte antigen B27 was positive in 1 case. From the onset of the disease to the last follow-up visit, a total of 92 lesions of skeletal involvement were found in the 6 children, predominantly in the tarsus (32, 34.8%), metatarsus (14, 15.2%), femur (9, 9.8%), and tibia (9, 9.8%). All 6 children received treatment with diclofenac sodium, methotrexate and adalimumab after diagnosis. Cases 1, 2, 4 and 6 received adalimumab at a dose of 40mg each time (once every 2 weeks), while cases 3 and 5 received adalimumab at a dose of 20mg each time (once every 2 weeks). Before admission, case 1 had a history of using adalimumab. After the recurrence of the disease, the efficacy of adalimumab was poor. The medication was then adjusted to infliximab at a dose of 200mg per administration (4mg/kg each time, once a month). After treatment, the condition was significantly relieved. After regular treatment for 3 months, the bone pain symptoms disappeared in 4 of the 6 children. For case 1, the bone pain disappeared after 8 months of treatment with infliximab, and for case 4, the bone pain disappeared after 4 months of treatment with adalimumab. During the follow-up process, all the children's inflammatory indexes returned to normal, and the imaging suggested that the lesions were significantly absorbed or disappeared compared with before treatment, and no TNF-α antagonist-related adverse drug reactions were seen. Conclusions TNF-α antagonists can control inflammation and improve symptoms and imaging changes in children with CRMO. No adverse drug reactions were observed during the follow-up period.

Objective To analyze the clinical characteristics and prognosis of PAPVC-IAS in order to improve the understanding of the disease. Methods A total of 16 children with PAPVC-IAS confirmed by echocardiography, cardiac CTA or surgery from June 2014 to June 2024 were collected. Their clinical and imaging features, as well as prognosis were analyzed. Results Among the 16 cases, there were 7males and 9 females. The age of the first diagnosis was from 4 to 101months. The most common type of ectopic drainage was the supracardiac type, including 7 cases (43.7%) of left superior pulmonary vein draining into left innominate vein through vertical vein, 3 cases (18.8%) of ectopic drainage of the right upper pulmonary vein into the superior vena cava; followed by infracardiac type, 4 cases (25.0%) of ectopic drainage of right inferior pulmonary vein to inferior vena cava; and the most rare is the intracardiac type, 2 cases (12.5%) of pulmonary vein directly flowing into right atrium. It was reported that the right atrium and right ventricle were slightly enlarged, and 31.2% (5/16) of the patients were associated with mild pulmonary hypertension. Surgical treatment can be given to children with surgical indications. PAPVC repair is a relatively safe operation with good outcomes and few complications. Conclusions PAPVC-IAS is easy to be missed in the early stage because of mild clinical symptoms. If unexplained cardiac enlargement or unexplained pulmonary hypertension is found, the diagnosis of the disease should be considered. The prognosis of the disease is good after surgical treatment.

Objective To evaluate the absorption and safety of vitamin D₃ nano-spray in children with vitamin D insufficiency. Methods A total of 47 children aged 3 to 18 years with vitamin D insufficiency who visited Shanghai Children's Medical Center from October 2023 to September 2024 were included and a prospective randomized non-inferiority controlled design was adopted, and the subjects were randomly assigned to the experimental group (n=19) and the control group (n=28). The experimental group received vitamin D₃ nano-spray, while the control group received vitamin D₃ drops (capsule form). The serum vitamin D levels of the subjects were measured at baseline and on the 56^th day of medication to evaluate the supplementation effect of vitamin D₃. The blood liver and kidney functions and parathyroid hormone levels of the subjects at baseline and on the 56^th day of medication were detected to evaluate the drug safety. Results After a 56-day intervention period, serum vitamin D levels in both experimental and control groups demonstrated a statistically significant improvement compared to baseline. Despite the overall improvement, the change of serum vitamin D levels was not significantly different between the two groups (P>0.05). Notably, the experimental group had significantly higher serum vitamin D₃ levels than the control group after 56 days (P<0.05). Throughout the study, no abnormalities in liver function, kidney function, and parathyroid hormone levels were observed. Conclusions The supplementation effect of vitamin D₃ nano-spray on children with insufficient vitamin D was not significantly different from that of vitamin D₃ drops. No adverse reactions were reported during the study period.

Objective To analyze the clinical characteristics and prognostic factors of hemophagocytic syndrome (HPS) in children. Methods A retrospective analysis was conducted on the clinical data and follow-up information of 45 children with HPS admitted from January 2017 to July 2023. Results The median age of onset in the 45 children was 4.5 (2.1-10.0) years, all of whom started with fever. Infection-related HPS accounted for 77.8%, with Epstein-Barr virus (EBV) infection being the most common (85.7%). The overall survival rate of all children was (88.9±4.7)%. Univariate analysis showed that triglycerides≥3.8 mmol/L and lactate dehydrogenase≥2500 U/L were risk factors affecting the prognosis of children with HPS (P<0.05 for both), and multivariate analysis showed that triglycerides≥3.8 mmol/L was an independent risk factor affecting the prognosis of children with HPS (P=0.029). Conclusion HPS often starts with fever, and infection (especially EBV infection) is the most common cause; the levels of triglycerides and lactate dehydrogenase at initial diagnosis (especially triglycerides≥3.8 mmol/L) are key factors in assessing prognosis.

Objective To investigate the incidence of kidney diseases for children in Qidong, evaluate the efficacy of early screening and intervention, and explore a feasible early screening model for pediatric chronic kidney diseases (CKD). Methods A prospective cohort was established, and children (0-1 year old) born in 2022 who underwent child health examinations at Qidong Women’s and Children’s Health Hospital were enrolled. Dual screening (urinary system ultrasound and urine dipstick screening) was performed. Infants with abnormal results in initial urine dipstick were repeat screened, and those with abnormalities found in the ultrasound screening were followed up. The questionnaire was used to assess parental awareness of pediatric kidney diseases, and the association between parents’ educational level and the awareness were analyzed using the Chi-square test. Results A total of 1 988 infants were included, with a median age of 1.10 (0.73-3.20) months, including 988 boys (49.7%). Ultrasound screening was completed for 1958 individuals (98.5%), and 231 abnormal cases (11.8%) were detected. Among them, 195 cases (10.0%) were congenital anomalies of the kidney and urinary tract, primarily isolated renal pelvis dilation (140 mild, 9 moderate, and 2 severe cases), followed by duplex kidney or duplicated renal pelvis, unilateral small kidney or bilateral kidneys of unequal size, renal cysts, and distal ureteral cysts. Additionally, 25 cases of renal crystal and 10 cases of increased echogenicity of both kidneys were detected. A total of 1933 individuals (97.2%) completed urine dipstick screening. Abnormalities were detected in 180 cases (9.3%) during the initial screening, with increased white blood cells in urine being the most common. The abnormal rate of re-screening was 0.5%. A total of 1903 infants completed dual screening. Among them, 17 cases (0.89%) had abnormal results in both screenings. A total of 1809 parental questionnaires on pediatric kidney diseases awareness were collected (response rate 91.0%), with an awareness rate of 11.2%. Parents with an educational level of college or above had a significantly higher awareness rate compared to those with lower education levels (P<0.05). Two cases of severe hydronephrosis were identified through early screening and were promptly treated with surgical intervention, with favorable prognoses achieved. Conclusions Early postnatal urinary system ultrasound and urine dipstick screening facilitate the early detection of pediatric kidney diseases, providing a crucial evidence for timely and effective clinical intervention.

Congenital chylothorax (CC) is the most common cause of pleural effusion during the neonatal period, with a reported perinatal mortality rate ranging from 15% to 57%. When associated with fetal hydrops, this mortality rate can increase dramatically, reaching as high as 98%. Currently, there are no universally accepted standardized treatment guidelines for CC. This study retrospectively reviewed the clinical presentation, diagnosis, treatment, and follow-up outcomes of two neonates diagnosed with refractory congenital chylothorax. Additionally, a comprehensive literature search was conducted using relevant keywords in both domestic and international databases from their inception to September 2024, aiming to summarize the clinical features and recent advances in the management of refractory congenital chylothorax in neonates. Both infants were born as near-term preterm babies and had prenatal ultrasound findings of bilateral pleural effusion. Following birth, they exhibited signs of respiratory distress and cyanosis of the lips, necessitating immediate transfer to the neonatal intensive care unit (NICU). The presence of elevated triglyceride levels in the pleural fluid confirmed the diagnosis of congenital chylothorax. Despite more than four weeks of conservative management—including endotracheal intubation with mechanical ventilation, closed thoracic drainage, dietary modifications, parenteral nutrition, and intravenous octreotide infusion—clinical improvement was not observed. Subsequently, oral propranolol was initiated. In case 1, complete resolution of pleural effusion was achieved before discharge, and no recurrence was observed during follow-up until six months of age. In case 2, the effusion showed partial improvement at discharge. However, after discontinuation of propranolol, recurrence occurred. The infant was managed with close observation, and the effusion resolved spontaneously within one week. No recurrence was noted during follow-up until seven months of age. This study suggests that propranolol may serve as a potentially effective and safe therapeutic option for refractory congenital chylothorax when conventional conservative treatments fail.

The genus Janibacter is a rare Gram-positive rod-shaped bacterium that mainly exists in the environment. This bacterium can cause bacteremia and may further develop into sepsis, aggravating clinical symptoms. In May 2022, a 9-year-old boy was admitted to our hospital due to "intermittent fever for over one month." Physical examination revealed scattered hemorrhagic rashes over the body, with notable involvement of the postauricular area. Multiple enlarged lymph nodes can be palpated bilaterally in the neck, in the left supraclavicular fossa and bilaterally in the axillae, approximately the size of broad beans, with a firm texture, fair mobility and no tenderness on palpation. Laboratory tests showed a white blood cell count of 2.79×10⁹/L↓, C-reactive protein of 6.41 mg/L↑, and procalcitonin of 0.2 ng/mL↑. Fecal occult blood was positive. Laboratory examinations revealed elevated levels of aspartate aminotransferase (65.6 U/L↑), alanine aminotransferase (60 U/L↑), lactate dehydrogenase (480 IU/L↑), and creatine kinase isoenzyme (30.7 U/L↑). Metagenomic next-generation sequencing (mNGS) identified Janibacter, with 408 sequences detected. The child was definitively diagnosed with Janibacter infection. After treatment with intravenous immunoglobulin, linezolid, and co-trimoxazole, the clinical symptoms improved, laboratory tests normalized, and no pathogens were detected on follow-up mNGS. This child represents the first reported pediatric case of sepsis caused by Janibacter melonis infection, both domestically and internationally.

A trial tachycardia (AT) originating from atrial appendage in 30% children with AT can often lead to tachycardia cardiomyopathy (TIC) resulted from the AT which is often incessant. Traditional radiofrequency ablation performed at atrial appendage usually is challenging with low success rate, high recurrence rate, and significant risk of pericardial tamponade. This article reports for the first time in China the successful treatment of a 10-year-old boy (34.5 kg) with AT originating from left atrial appendage combined with TIC using a novel contact force sensing pulsed field ablation (PFA) catheter. The clinical manifestations of the child were persistent palpitations with reduced heart function, which was detected by echocardiography with left ventricular end-diastolic diameter (LVEDD) of 48mm and left ventricular ejection fraction (LVEF) of 46%. The focal origin of the AT was confirmed at the distal position of left atrial appendage by the characteristics of 12-lead ECG and local activation time (LAT) map with 3-dimentional mapping system. During the procedure, the AT was successfully terminated using the novel PFA catheter with 1800V pulse-field energy at the contact force of about 20g and the total time of ablation application was 20s. The 1-month follow-up after the operation showed no recurrence of AT, significant improvement in cardiac function (LVEF 58%, LVEDD 44mm), and no complications occurred. This case report preliminarily demonstrated that novel contact force sensing PFA catheter provided a safe and effective strategy for minimally invasive treatment of refractory pediatric arrhythmia originating from atrial appendage by realizing three technical advantages: precise ablation in children's narrow cavity of atrial appendage, ultra-short ablation time and real-time contact force feedback. This technological breakthrough is of great significance for promoting the development of interventional treatment for complex arrhythmias in children.

Mercury (Hg) is a heavy metal that poses severe health risks to children. Mercury can cause irreversible damage to the nervous system, and its mechanisms have been extensively studied. However, the effects of mercury exposure on the immune system remain poorly understood. This review synthesizes the immunotoxicity of different forms of mercury and heir associated toxicological mechanisms,elucidating the multiple pathways by which mercury exposure impairs immune function, including its impact on immune cells, immunoglobulins, and cytokines. Additionally, this article examines the potential correlations between mercury exposure and childhood autoimmune diseases as well as cancer. Nutrients such as selenium and vitamin E may offer protective effects against mercury exposure. Despite these findings, the precise immunotoxicity mechanisms of mercury remain unclear, underscoring the need for further standardized research to delineate its effects and develop effective intervention strategies.

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasm. At present, the primary therapeutic strategy is risk-stratified chemotherapy. Nevertheless, significant clinical challenges persist, including high rates of disease reactivation and a considerable number of refractory cases. Currently, no standardized treatment protocol exists for refractory LCH. Nucleoside analog-based chemotherapy remains the mainstay of therapy, although it is associated with a substantial risk of complications. While targeted therapies demonstrate rapid efficacy, disease recurrence remains a common issue. Therefore, further investigation into combination treatment strategies and optimization of therapeutic regimens is warranted. With ongoing advances in understanding the pathogenesis of LCH and the development of novel therapeutic modalities, there is optimism that the management of refractory LCH will improve significantly, ultimately leading to better patient outcomes.