Journal of Clinical Pediatrics

The current management and early diagnosis of renal tubular diseases in children

HUANG Wenyan, KANG Yulin

Journal of Clinical Pediatrics. 2022, 40(12): 881-885. doi:10.12372/jcp.2022.22e1435

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Renal tubule disease is a kind of disease caused by various primary and/or secondary factors, which leads to abnormal structure, function and cell metabolism of the renal tubule. To date, there is no consensus on the classification of renal tubular diseases. We preliminarily classify renal tubular diseases according to their course, causes, involved sites, types of substance transport disorder, and the unified name of human genome organization. A unified and standardized classification is helpful for clinical diagnosis and treatment of renal tubular diseases. Due to the diversity of its clinical manifestations in children, the lack of specific symptoms, the slow progress of the disease, and the limited laboratory diagnostic methods, the lack of understanding of such diseases, misdiagnosis and mistreatment occur frequently in clinic. Thus, early recognition of renal tubular diseases is crucial. The early diagnosis of renal tubular diseases depends on the detailed inquiry of medical history, careful observation of clinical symptoms and signs, and the data of relevant laboratory, imaging examinations and genetic analysis. In addition, multidisciplinary cooperation is valuable to improve the prognosis of renal tubular diseases.

Clinical application of glomerular filtration rate in children

GAO Chunlin

Journal of Clinical Pediatrics. 2022, 40(12): 886-893. doi:10.12372/jcp.2022.22e1222

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Glomerular filtration rate (GFR) is one of the important indicators to measure renal function status. It is used in the clinical diagnosis of chronic kidney disease (CKD) and its staging, selection of kidney transplant donors, setting of endpoint events in scientific research, etc. It is also an indispensable index in the fields of cancer treatment monitoring, clinical drug dose adjustment in ICU critical care treatment, drug toxicity monitoring and new drug development. GFR in children can be assessed by both estimation and detection. The estimation method has clinical practicability. The current equations used for eGFR in children are ethnically and geographically specific, and their accuracy is influenced by the population of the developed dataset. Schwartz 1987 version is widely used in China. It should be noted that this method is a colorimetric method for creatinine determination. Schwartz 2009 equation is also widely used, but its accuracy (P₃₀) in Chinese children with CKD is low, which is less than 80%. New estimating equations from large samples of Chinese children are urgently needed. In cases where accurate GFR is required, the method of measuring GFR is used. This paper introduces the advantages, disadvantages and application status of indicators used to estimate and measure GFR in pediatrics.

Genetic background, diagnosis and treatment of glomerular basement membrane-associated kidney disease

KUANG Xinyu

Journal of Clinical Pediatrics. 2022, 40(12): 894-898. doi:10.12372/jcp.2022.22e1257

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Glomerular basement membrane (GBM) is an important component of the glomerular filtration barrier. Variations in various genes encoding GBM-related proteins may lead to structural and functional abnormalities in GBM, resulting in a variety of primary glomerular diseases, such as Alport syndrome and Pierson syndrome. Insufficient clinical understanding of GBM-related diseases can lead to misdiagnosis and underdiagnosis. In this article, we will elaborate on the genetic background of primary GBM and the progress of treatment of its related diseases to improve clinicians' understanding of these diseases.

Clinical and prognostic significance of glomerular C3 deposition in children with primary membranous nephropathy

WANG Ren, XIA Zhengkun, ZHANG Pei, GAO Chunlin

Journal of Clinical Pediatrics. 2022, 40(12): 899-904. doi:10.12372/jcp.2022.22e0410

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Objective To investigate the effect of glomerular C3 deposition on clinical and pathological features and prognosis of primary membranous nephropathy (PMN) in children. Methods The clinical data of children diagnosed with PMN by renal puncture from January 2008 to December 2020 were retrospectively analyzed. According to the intensity of glomerular C3 staining by immunofluorescence of renal pathology, the children were divided into low-intensity group (LI group, C3+) and high-intensity group (HI group, C3++ or +++). The clinicopathological features at baseline and treatment outcomes were compared between the two groups. The influencing factors of PMN progressing to end-stage renal disease (ESRD) were analyzed. Results A total of 213 children were included. There were 92 children in LI group and 121 children in HI group. Compared with the LI group, the HI group was older, the 24h urine protein quantity was higher, the serum albumin and eGFR levels were lower, the proportion of massive proteinuria, IgG immunofluorescence staining intensity +++, and IFTA moderate grade were higher, and the differences were statistically significant (P<0.05). The utilization rate of cyclophosphamide in LI group was higher than that in HI group, and the difference was statistically significant (P<0.05). After 43.0 (13.0-85.0) months of follow-up, 92 patients in the LI group completed the follow-up, and one patient progressed to ESRD. Sixty-eight children had complete response (CR) and partial response (PR), and 24 had no response (NR). After 57.0 (20.0-86.0) months of follow-up, 121 patients in HI group completed the follow-up, and five patients progressed to ESRD. Eighty-six children had CR and PR, and 35 had NR. The log-rank test showed that when baseline eGFR≤90 mL·min^-1·1.73 m^-2, the time of progression to ESRD was shorter, and the difference was statistically significant (P<0.05). Multivariate Cox regression analysis showed that increased eGFR at baseline was an independent protective factor for delaying the progression to ESRD (HR=0.96, 95% CI: 0.929-0.987), while glomerular C3 deposition was not associated with the occurrence of ESRD. Conclusions Extensive glomerular C3 deposition is not a predictor of renal failure in children with PMN.

Comparison of different estimation formulas of glomerular filtration rate in children aged 15-18 years with chronic kidney disease

KUANG Qianhuining, GAO Chunlin, ZHU Hong, YANG Xiao, PENG Yingchao, XIA Zhengkun

Journal of Clinical Pediatrics. 2022, 40(12): 905-911. doi:10.12372/jcp.2022.21e1353

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Objective To compare the accuracy and applicability of eight estimation formulas for glomerular filtration rate (GFR) in children aged 15-18 years with chronic kidney disease (CKD). Methods Children with CKD hospitalized from January 2015 to March 2021 wereenrolled. Eight eGFR formulas (update Schwartz formula, CAPA formula, Counahan-Barratt formula, Filler formula, CKD-EPI-Scr2009, CKD-EPI-CysC2012, LMR18, FAS formula) were applied to estimate GFR. The Gates method of 99mTc-DTPA renal dynamic imaging was used as the gold standard GFR (sGFR) determination. The bias, precision and accuracy of each formula were compared, and the diagnostic efficacy of each formula for renal insufficiency was analyzed. Results A total of 88 children were enrolled, including 56 boys and 32 girls, and the median age was 17.0 (16.0-18.0) years. There were 56 cases of CKD stage 1, 18 cases of CKD stage 2, 11 cases of CKD stage 3, 2 cases of CKD stage 4, and 1 case of CKD stage 5. The eGFR in all formulas was positively correlated with sGFR (all P<0.001). The CKD-EPI-Scr2009 formula had the best correlation with sGFR (r=0.73), and the Filler formula had the worst correlation with sGFR (r=0.39). The CAPA, CKD-EPI-Scr2009 and FAS formulas overestimated the GFR on the overall level, while the other formulas underestimated GFR. When sGFR was used as the gold standard, the FAS formula had the smallest bias and the CAPA formula had the largest bias. In terms of precision, the LMR18 formula showed the best precision, followed by the update Schwartz formula, and the CAPA formula showed the worst precision. In terms of accuracy, the LMR18 formula showed the highest accuracy (P₃₀=73.86%). ROC curve analysis showed that the area under the curve (AUC) of the CKD-EPI-Scr2009 formula was the largest (0.907), the sensitivity of CAPA, Filler, and CKD-EPI-CysC2012 formulas were the highest (95.90%), and the specificity of LMR18 and FAS formulas were the highest (85.71%). Conclusions Among the eight eGFR formulas, the accuracy of CysC-based formulas (CAPA, Filler and CKD-EPI-CysC2012 formula) is not as good as Scr-based formulas (update Schwartz, Counahan-Barratt, CKD-EPI-Scr2009, LMR18 and FAS formula), and LMR18 formula has the highest precision and accuracy.

Analysis of SLC5A2 gene variation in 11 children with primary renal glucosuria

WAN Ling, CHEN Chaoying, TU Juan, LI Huarong

Journal of Clinical Pediatrics. 2022, 40(12): 912-918. doi:10.12372/jcp.2022.22e0998

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Objective To summarize the clinical characteristics of children with primary renal glucosuria (PRG), and analyze the variation of SLC5A2 gene. Methods The clinical data and genetic test results of children diagnosed with PRG from 2013 to 2021 were retrospectively analyzed. Results There were 11 children (5 boys and 6 girls) with PRG, with a male/female ratio of 1:1.2. The median age at diagnosis was 29 months (1 day to 13 years). Five patients had a family history of glucosuria and none had a family history of diabetes. Two patients had mild and 9 patients had severe glucosuria. The blood glucose, glycated hemoglobin, insulin, C-peptide, renal function and renal ultrasound results were normal in all children. During the follow-up period, there were no symptoms of diabetes or systemic fatigue, and the children had normal growth and development without serious complications. No homozygous variation was found in SLC5A2 gene, the proportion of heterozygous variation was 36% (4/11), and the proportion of compound heterozygous variation was 64% (7/11). A total of 14 variants were found, including 10 missense variants, 1 deletion variant and 3 splicing variants. Among them, 5 variants have been reported in the literature, and 9 variants, p.S161F, p.A169T, p.P275L, p.A312P, p.A365T, p.Y410C, p.F471L, c. 1889_1891del, and c. 1665+5G> C, are new variants, which are predicted to be pathogenic by software and function. Among the 4 children with heterozygous variation, 2 had mild and 2 had severe glucosuria. Seven children with compound heterozygous variation showed severe diabetes. Conclusions SLC5A2 gene detection is helpful for the diagnosis of PRG. The clinical phenotype of PRG is correlated with its genotype. Heterozygous variation may show mild or severe glucosuria, while compound heterozygous variation mostly shows severe glucosuria. The clinical manifestation of children with PRG is mostly benign and does not affect the growth and development of children.

Clinical features and prognostic factors of SHH medulloblastoma in children

GAO Wenchao, SUN Yanling, LI Miao, REN Siqi, DU Shuxu, WU Wanshui, SUN Liming

Journal of Clinical Pediatrics. 2022, 40(12): 919-924. doi:10.12372/jcp.2022.21e1607

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Objective To retrospectively analyze the clinical characteristics of sonic hedgehog (SHH) medulloblastoma (MB) in children, and to explore the prognostic factors. Methods The clinical data of SHH MB children from June 2015 to October 2019 were retrospectively analyzed. The overall survival rate and event-free survival rate were calculated by the Kaplan-Meier method. The survival rate between groups was compared by log-rank test. Cox proportional hazards regression model was used for multivariate analysis. Results A total of 99 children (62 boys and 37 girls) with SHH MB were enrolled. The median age was 6.0 (3.3-6.0) years, of which 75 children were ≥3 years old and 24 children were <3 years old. There were 66 cases of M₀ stage and 33 cases of M₊ stage. Total resection was performed in 72 children and near total resection in 27 children. The main pathological type was desmoplastic/nodular MB (DMB). Tumor origin sites were commoner in midline sites (fourth ventricle, posterior fossa, cerebellar vermis). SUFU germline variation was found in two children. The median follow-up time was 3.2 (2.2-4.1) years, the 3-year EFS rate was (61.0±5.0) %, the 3-year OS rate was (72.2±4.6) %, and 39 children (39.4%) had progression or recurrence. The 3-year OS rates of DMB and MB with extensive nodularity (MBEN) <3 years old are (80.0±10.3) % and (57.1±18.7) %, respectively. Among them, 12 patients with M₀ stage, without MYCN amplification and SUFU germline variation only received chemotherapy without radiotherapy. Cox regression model analysis showed that M₊ stage, TP53 mutation or MYCN, GLI2 amplification, and pathological type of large-cell/anaplastic was an independent risk factor for the prognosis of the disease (P<0.05). Conclusions The prognosis of SHH MB children is related to M stage, pathological type, TP53 mutation, MYCN or GLI2 amplification. Infants with pathological types of DMB and MBEN without the above risk factors and SUFU germline variation have a better prognosis, so radiotherapy is not necessary.

The antibiotic resistance and treatment strategies of Helicobacter pylori in children in Wuxi

ZHOU Danli, WANG Yan, LING Jingjing, GU Lan, HAN Meiling, LIN Qiong

Journal of Clinical Pediatrics. 2022, 40(12): 925-929. doi:10.12372/jcp.2022.21e1407

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Objective To analyze the infection and drug resistance of Helicobacter pylori (Hp) in outpatients in Wuxi, Jiangsu province, and to explore the strategy of rational use of antibiotics. Methods The clinical data of children who underwent gastroscopy in gastroenterology outpatient department due to upper gastrointestinal symptoms from December 2018 to July 2021 were retrospectively analyzed. Results Gastric antral mucosa samples were collected from 716 children, including 392 boys and 324 girls. The median age was 11.0 (9.0-13.0) years, and there were 454 children ≤12 years old and 262 children >12 years old. Hp culture was positive in 260 children (36.3%), including 132 boys and 128 girls. There were 148 children ≤12 years old and 112 children >12 years old. The positive rate of Hp in children >12 years old (42.7%) was significantly higher than that in children ≤12 years old (32.6%), and the difference was statistically significant (P<0.05). The results of drug susceptibility test of 260 Hp strains showed that 10.4% (27/260) of the strains were sensitive to all six antimicrobial agents. The drug resistance rates of metronidazole, clarithromycin and leofloxacin were 75.4% (196/260), 37.7% (98/260) and 20.8% (54/260), respectively. No strains resistant to furazolidone, amoxicillin and tetracycline were found. Seventy-six patients were resistant to two antimicrobial agents, including 45 patients with dual resistance to clarithromycin and metronidazole, 11 to clarithromycin and levofloxacin, and 20 to metronidazole and levofloxacin. Nineteen children were resistant to clarithromycin, metronidazole and levofloxacin. Conclusions The positive rate of Hp culture in children of Wuxi region increased significantly with age. The drug resistance rate of Hp to metronidazole is very high. Metronidazole should be avoided in empirical treatment, and tetracycline and furazolidone can be considered to replace metronidazole.

Clinical analysis of different types and atypical manifestations of Miller-Fisher syndrome in children

WANG Lei, DENG Yaxian, XU Juanyu, WANG Yajie

Journal of Clinical Pediatrics. 2022, 40(12): 930-933. doi:10.12372/jcp.2022.22e0626

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Objective To study the clinical features of different types of Miller-Fisher syndrome (MFS), and to analyze atypical clinical manifestations of MFS. Methods The clinical data of 19 children with MFS were retrospectively analyzed. Results Among the 19 children (7 boys and 12 girls), 10 had classic MFS, 1 had acute ophthalmoparesis (incomplete MFS), 2 had MFS/Bickerstaff brainstem encephalitis (BBE), and 6 had MFS/ Guillain-Barré syndrome (GBS). Nineteen children had the Ⅲ, Ⅳ and Ⅵ cranial nerve palsy, and three children had ophthalmoplegia. There were 7 cases of cranial nerve palsy other than ophthalmic nerve, including 5 cases of Ⅶ cranial nerve palsy, and 5 cases of Ⅸ and Ⅹ cranial nerve palsy. The atypical symptoms included visual deterioration in 2 cases, proptosis in 1 case, ophthalmalgia in 1 case, upper eyelid swelling in 1 case, dizziness in 2 cases, and headache in 1 case. Eight patients had positive peripheral neuropathy antibodies including GQ1b-IgG, GQ1b-IgM, GD1b-IgM, GD2-IgM, GT1a-IgG, GM1-IgG, GM2-IgM, Sulfatide-IgG, and Sulfatide IgM+IgG. One patient had positive myasthenia gravis antibodies (acetylcholine receptor antibody and ryanodine receptor calcium release channel antibody). Finally, MFS was diagnosed after full differential diagnosis combined with clinical practice. Conclusions Different types of MFS have different characteristics, and there are atypical symptoms. Antibodies should not be used as diagnostic criteria alone, and comprehensive clinical analysis should be combined.

Effect of ketogenic diet on epilepsy with genetic etiology

HU Xiaoyue, JING Miao, WANG Yanping, HUA Ying

Journal of Clinical Pediatrics. 2022, 40(12): 934-938. doi:10.12372/jcp.2022.21e1415

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Objective To analyze the clinical efficacy of ketogenic diet in the treatment of epilepsy with genetic etiology. Methods The clinical characteristics, ketogenic diet efficacy and prognosis of 10 epilepsy patients with genetic etiology treated in Wuxi Children's Hospital from April 2017 to March 2021 were retrospectively analyzed. Results here were 4 boys and 6 girls. The age of onset was 3 days to 16 months, and the age of ketogenic diet treatment ranged from 2 months to 12 years. The birth history was normal in each patient, and there was no abnormality in blood biochemistry, cranial MRI and hematuria genetic metabolism screening. SCN1A gene variation was found in 5 cases, and SLC2A1 gene variation was found in 2 cases. The other 3 cases had SCN2A, KIF1A and PIGA gene variation, respectively. During the follow-up period of 6 months to 4 years and 5 months after ketogenic diet, 4 cases had seizure free, including 2 cases of SLC2A1 variation and 2 cases of SCN2A and PIGA variation. Three patients with SCN1A variation had seizure reduction of more than 50%, and the other two patients with SCN1A variation had seizure reduction of less than 50%. The seizures of one child were significantly reduced after the addition of perampanel. The children with KIF1A gene variation had no significant improvement in seizures after ketogenic diet. Conclusions Ketogenic diet has a significant effect on some patients with refractory epilepsy, especially those with SLC2A1, SCN2A, PIGA and SCN1A variation. Identification of pathogenic genes is helpful to predict the efficacy of ketogenic diet.

Clinical imaging and pathological analysis of fibro-adipose vascular anomaly in children

WANG Xueli, CHEN Lian, WANG Qingyu, ZHANG Bin

Journal of Clinical Pediatrics. 2022, 40(12): 939-943. doi:10.12372/jcp.2022.22e0863

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Objective To summarize the clinicopathological features of fibro-adipose vascular anomaly (FAVA) in children, explore its diagnosis and treatment, improve the understanding of the disease by clinicians and pathologists, and reduce the rate of misdiagnosis. Methods The clinical data of 22 children with suspected FAVA admitted from July 2016 to February 2022 were retrospectively analyzed. According to the clinical data, the clinical characteristics were analyzed, and the key points of imaging and pathological diagnosis were summarized. Results Twenty-two patients (11 boys and 11 girls, with mean age of 7.22 years) met the clinical, radiological, and histopathological inclusion criteria for FAVA. The clinical presentation is a slow-growing mass with pain and/or contracture. Magnetic resonance imaging showed heterogeneous intramuscular, intermuscular or subcutaneous high and low signal mixed diffuse lesions with venous dilatation. Pathological findings included dense fibrous tissue in skeletal muscle, excessive fat, focal aggregation of blood vessels, lymphatics and lymphocytes and plasma cells, vascular hyperplasia, and skeletal muscle atrophy. In 22 cases, except for 2 cases of palliative resection and 1 case of local disengagement surgery, the remaining 19 cases underwent macroscopic complete resection. The follow-up period ranged from 2 months to 5 years and 10 months. Two children recurred, with a recurrence rate of 10.5%. The pain disappeared in all children except the recurrence cases.Conclusions Early surgery is recommended for vascular tumors/malformations that do not respond to repeated sclerotherapy and for those that cannot be clearly diagnosed clinically or radiographically. Postoperative pathology can confirm the diagnosis, and surgery can achieve the purpose of treatment.

Systemic lupus erythematosus in children with onset of lupus mesenteric vasculitis: a case report

LIU Yuanyuan, KUANG Xinyu, KANG Yulin, SUN Liwen, HU Yujie, HUANG Wenyan

Journal of Clinical Pediatrics. 2022, 40(12): 944-949. doi:10.12372/jcp.2022.22e0734

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Lupus mesenteric vasculitis (LMV) as the first onset of systemic lupus erythematosus (SLE) in children is very rare. The clinical manifestations are abdominal pain, vomiting, diarrhea and other non-specific symptoms, which are easy to be misdiagnosed. A 13-year-old boy was admitted to Shanghai Children's Hospital who presented with abdominal pain and vomiting for 2 days. Physical examination on admission found that the child's abdominal muscles were tense and bowel sounds were weakened. Laboratory tests showed platelets of 30×10⁹/L, positive antinuclear antibody (1:320), positive anticardiolipin antibody IgM, decreased complement C3 and C4, weakly positive Coomb's test, and 24-hour urinary protein of 1.18 g. Abdominal CT showed significantly thickened and edema intestinal wall. After the patient was diagnosed with SLE and LMV, he was treated with 60 mg of methylprednisolone and hydroxychloroquine. The abdominal pain improved, but the platelet gradually decreased. After high-dose methylprednisolone and cyclosporine pulse therapy, platelet was still decreasing. After rituximab treatment, the patient's platelets gradually increased, and he was subsequently treated with belimumab. He was discharged after his condition stabilized. LMV can be the first manifestation of SLE. Abdominal CT has an important value in the diagnosis of LMV. Glucocorticoids can effectively alleviate the disease, but LMV is prone to relapse. Cyclophosphamide pulse therapy and rituximab may be effective in patients with relapse.

Research progress of airway mucus hypersecretion in children

XIA Ying, LUO Jian

Journal of Clinical Pediatrics. 2022, 40(12): 950-955. doi:10.12372/jcp.2022.21e1630

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Airway mucus is an important part of the human respiratory system's defense barrier. Under pathological conditions, excessive mucus secretion will block the airway, cause ventilatory dysfunction, and reduce mucociliary clearance and local defense functions. The common airway mucus hypersecretion disease in children is very different from that in adults. The assessment of airway mucus hypersecretion is still under exploration, and the core of its treatment is to reduce mucus production and promote mucus excretion.

Research progress on the correlation between growth hormone and gut microbiota

SHI Liyun, WANG Aiping

Journal of Clinical Pediatrics. 2022, 40(12): 955-959. doi:10.12372/jcp.2022.21e1593

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Human growth hormone (hGH), synthesized by eosinophils in the anterior pituitary gland, exerts effects on growth and metabolism through insulin-like growth factor-1 (IGF-1). Short stature caused by GH deficiency or insufficient secretion is called growth hormone deficiency (GHD), but its specific etiology and exact mechanism have not been fully explained. In recent years, with the in-depth understanding and research of gut microbiota, it has been found that the GH-IGF-1 axis is correlated with gut microbiota. This article reviews the research on the relationship between the GH-IGF-1 axis and the gut microbiota.

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