Journal of Clinical Pediatrics

Clinical characteristics of infantile liver disease

YU Ronghua, WANG Yizhong, ZHANG Ting

Journal of Clinical Pediatrics. 2021, 39(1): 2. doi:10.3969/j.issn.1000-3606.2021.01.001

Abstract ( 403 )

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Objective To explore the clinical characteristics of infantile cholestatic liver diseases and non-cholestatic liver diseases. Methods? The clinical data of liver disease in infants were retrospectively analyzed, and the clinical differences between cholestatic and non-cholestatic liver disease in infants were compared. Results Among 1985 children ( 866 males and 1119 females) aged (2.88±3.088) months at admission, there were 477 cases (24.0%) of cholestasis, and 1 508 cases (76.0%) of non-cholestasis. Univariate analysis showed that the age of cholestasis infants was younger than that in non-cholestasis infants, and the levels of total bilirubin, direct bilirubin, γ-glutamyltranspeptidase, alkaline phosphatase and total bile acid were higher than those in non-cholestasis infants. The differences were statistically significant (all P< 0 . 05 ). Multivariate logistic regression analysis showed that with the higher levels of γ-glutamyltranspeptidase, alkaline phosphatase and total bile acid, the age and albumin level were lower and the possibility of cholestasis was higher. Conclusions Compared with non-cholestatic liver disease in childhood, cholestatic liver disease has earlier onset and higher levels of gamma glutamyltranspeptidase, alkaline phosphatase and total bile acid, which may help the differentiation in clinic.

Etiological analysis of inherited metabolic liver disease in 330 children

JIANG Tao, LI Shuangjie, OUYANG Wenxian, et al

Journal of Clinical Pediatrics. 2021, 39(1): 6. doi:10.3969/j.issn.1000-3606.2021.01.002

Abstract ( 443 )

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Objective To explore the etiology of inherited metabolic liver disease. Method The clinical data of inherited metabolic liver disease in children admitted from January 2013 to December 2019 were retrospectively analyzed. Results A total of 330 (205 males and 125 females) children with inherited metabolic liver disease were enrolled and the onset age ranged from 1 month to 14 years. The etiology of the disease includes more than 50 causes, ordered from Citrin deficiency disease ( 120 cases, 36. 36%), Wilson disease (WD, 53 cases, 16. 06%), glycogen storage disease (GSD, 52 cases, 15. 76%), hereditary hyperbilirubinemia ( 25 cases, 7 . 58 %), Alagille syndrome ( 16 cases, 4 . 85 %) and progressive familial intrahepatic cholestasis (PFIC, 10 cases, 3. 03%), etc. Cholestasis and elevated transaminase were the main initial manifestations in the children, including 188 cases of cholestasis (56.97%) and 127 cases of elevated transaminase (38.48%). There were 181 children (54.85%) with onset age of less than 1 year and they mainly had Citrin deficiency disease ( 120 cases), glycogen storage disease ( 10 cases), PFIC (7 cases), Alagille syndrome (7 cases) and Dubin-Johnson syndrome (6 cases). There were 149 cases (45.15%) with onset age of 1 year or above, in which there were 42 cases of GSD and 52 cases of WD. Conclusion The etiology of inherited metabolic liver disease is complex, and the age at onset and clinical manifestations should be combined for clinical diagnosis and analysis.

Clinical analysis of acute pancreatitis induced by dyslipidemia in 13 children

YE Liping, CHEN Huan, GONG Sitang, et al

Journal of Clinical Pediatrics. 2021, 39(1): 9. doi:10.3969/j.issn.1000-3606.2021.01.003

Abstract ( 383 )

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Objective To explore the clinical characteristics of acute pancreatitis (AP) induced by dyslipidemia in children. Method The clinical data of children diagnosed with AP induced by dyslipidemia from December 2015 to December 2019 were retrospectively analyzed. Results? In 62 cases of confirmed AP, there were 13 cases ( 20. 97%) of AP induced by dyslipidemia and they were 10 boys and 3 girls aged from 2 to 15 years. The course of disease ranged from 1 day to 1 year in 1 severe case and 12 mild cases. There were abdominal pain in 13 cases, nausea and vomiting in 8 cases, protein energy malnutrition in 4 cases and shock in one case. One patient was accompanied by lipoma, hepatosplenomegaly, decreases of red blood cells, white blood cells and platelets. Two cases had obesity and one case had diabetes. There were 4 cases of hypertriglyceridemia, 4 cases of hypercholesterolemia, 3 cases of mixed hyperlipidemia and 2 cases of low-density lipoprotein cholesterol. The whole exon gene tests were performed in 3 patients, among whom two patients with LPL gene variant were diagnosed with familial hyperchylomicemia. Imaging abnormalities were found in 10 cases. B-ultrasonography showed pancreatitis in 9 cases and MRCP showed pancreas enlargement in 8 cases. The treatment included diet management, acid suppression and somatostatin. Two patients received intravenous levocarnitine and oral nicotinamide tablets, and one with severe AP received anti-shock treatment. Clinical remission was achieved in all 13 patients, and one patient relapsed 2 weeks after discharge due to eating a large amount of fish soup. Conclusion Dyslipidemia induced AP in children is not rare and standardized diet guidance is one of the important measures for treatment.

Progressive familial intrahepatic cholestasis caused by TJP2 gene mutation: a report of 3 cases and literature review

GE Ting, WANG Yizhong, ZHANG Ting

Journal of Clinical Pediatrics. 2021, 39(1): 13. doi:10.3969/j.issn.1000-3606.2021.01.004

Abstract ( 712 )

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Objective To explore the clinical and genetic characteristics of progressive familial intrahepatic cholestasis (PFIC) caused by tight junction protein 2 (TJP 2 ) gene mutation. Method The clinical data of PFIC caused by TJP 2 gene mutation in 3 children were summarized and the relevant literature was reviewed. Results In all 3 children ( 1 girl and 2 boys), the onset was in infancy and jaundice was the main clinical manifestation with or without pruritus. The serum total bilirubin increased, mainly the direct bilirubin. Alanine aminotransferase, aspartate aminotransferase and total bile acid were elevated, and γ-glutamyl transpeptidase (GGT) was normal or slightly low. The changes of above indexes indicated low GGT cholestasis. The second generation gene sequencing showed that there were TJP2 complex heterozygous variants in all the 3 children, and all of them were diagnosed with PFIC 4 caused by TJP2 mutation. Literature review shows that TJP2 gene mutations can cause childhood diseases such as PFIC, hypercholanemia, progressive non-syndromic deafness, and myopia. Conclusion Three cases of PFIC 4 caused by composite heterozygous variation of TJP2 gene were diagnosed by gene detection.

Drug-induced biliary disappearance syndrome: a report of 3 cases and literature review

YANG Huamei, LI Xufang, TAN Limei, et al

Journal of Clinical Pediatrics. 2021, 39(1): 18. doi:10.3969/j.issn.1000-3606.2021.01.005

Abstract ( 389 )

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Objective To explore the clinical features and pathology of drug-induced vanishing bile duct syndrome (VBDS) in children. Method The clinical data of drug-induced VBDS in 3 children from January 2019 to December 2019 were collected and analyzed in combination with the literature. Results Three children ( 1 girl and 2 boys) aged from 9 months to 8 years had jaundice cholestasis with pruritus as main clinical manifestations. All the patients were treated with liver protection, anti-jaundice and immunosuppression. After 3 months of treatment, the clinical symptoms and biochemical indexes of 2 patients were basically recovered. One patient still presented mild jaundice cholestasis after 1 year of treatment and was still in follow-up. Conclusion? Early identification of drug-related VBDS, discontinuation of related drugs and active treatment can improve the prognosis.

Evaluation of the characteristics of pulmonary artery pressure in children with patent ductus arteriosus at different altitudes

ZHANG Xing, SU Zhongjian, LIU Hongyu, et al

Journal of Clinical Pediatrics. 2021, 39(1): 22. doi:10.3969/j.issn.1000-3606.2021.01.006

Abstract ( 316 )

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Objective To explore the influence of plateau atmospheric environment on the incidence of patent ductus arteriosus (PDA) and pulmonary artery pressure (PAP) in children. Methods? The clinical data of children at different elevations in Yunnan province who received interventional cardiac catheterization and PAP determination from 2016 to 2019 were analyzed retrospectively. Pulmonary artery systolic pressure (PASP), pulmonary artery diastolic pressure (PADP) and mean PAP (mPAP) were measured by the COOK 5 F interventional guide catheter and LLC PX 260 pressure sensor in children with PDA alone. The altitude of residence was queried through satellite maps. Results Among the 266 children with PDA alone, the mPAP of the children living at altitudes less than 1500 m and more than 1500 m were ( 24 . 0 ± 5 . 8 ) and ( 25 . 1 ± 8 . 4 ) mmHg respectively, which were close to or higher than the diagnostic threshold of pulmonary hypertension ( 25 mmHg) in children. The mPAP level of children showed an increasing trend with the increase of PDA diameter and the altitude of residence. The analysis of variance showed that there were significant differences in PASP, PADP, and mPAP among PDA children living at different altitudes and with different PDA diameters (P< 0 . 05 ). Multiple linear regression analysis showed that there was a positive correlation between PDA diameter and mPAP (P< 0 . 001 ). Conclusions Exposure to atmosphere of low pressure and low oxygen may be one of the important factors that lead to the incidence of PDA and the persistence of high PAP in children in plateau areas. As the altitude at residence was elevated and the diameter was increased, PDA-induced pulmonary hypertension becomes more prominent. These children may gain more health benefits from occlusion treatment.

Retrospective analysis of diagnostic accuracy for congenital syphilis in neonates

CHEN Hao, WU Yejuan, BAO Han, et al

Journal of Clinical Pediatrics. 2021, 39(1): 26. doi:10.3969/j.issn.1000-3606.2021.01.007

Abstract ( 526 )

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Objective? To explore the necessity of establishing a unified diagnostic standard for congenital syphilis (CS). Methods The clinical data of 85 newborns admitted for maternal syphilis infection from January 2016 to February 2020 were retrospectively analyzed. The CS diagnosis was evaluated by the Guidelines for the Management of Sexually Transmitted Diseases 2015/Red Book, Infection Association Report 2015 (CDC/AAP guidelines), 2014 European Syphilis Management Guidelines (European guidelines) and 2015 Implementation Plan for Prevention of Mother-to-child Transmission of HIV/AIDS, Syphilis and Hepatitis B (Chinese criterion) respectively. The consistency of the above three criteria in the diagnosis of CS was compared. Results? In the confirmed/highly suspected or suspected cases that were included in CS group, 32 cases were diagnosed by CDC/AAP guidelines, 40 cases were diagnosed by European guidelines and 15 cases were diagnosed by the Chinese criterion. A total of 40 cases were diagnosed according to the three criteria, among which 14 cases met all the three criteria. The cases diagnosed by the CDC/AAP guidelines and the Chinese criterion are in the cases diagnosed by the European guidelines, and the same cases diagnosed by the CDC/AAP guidelines and the Chinese criterion was 14 . Among the 10 children with positive Tp test and abnormal long bone X-rays, 7 were not diagnosed by CDC/AAP guidelines because their mothers received standard treatment before or during pregnancy, while the other 3 cases were diagnosed by CDC/AAP due to irregular treatment during pregnancy. None of the 10 cases were diagnosed by the Chinese criterion. One patient with positive Tp test and positive Tp-IgM was not diagnosed by the CDC/AAP guidelines, but was diagnosed by the other two criteria. Fifteen patients with positive Tp test and negative other indexes and irregular treatment during pregnancy were not diagnosed by the Chinese criterion, but were all diagnosed by the other two criteria. The CDC/AAP guidelines have strong consistency with the European guidelines and the Chinese criterion, with the weighted Kappa of 0 . 611 and 0 . 705 respectively. However, the consistency between the European guidelines and the Chinese criterion was moderate, with a weighted Kappa of 0 . 304 . Conclusion? It is necessary to formulate a unified CS diagnostic criterion in clinical practice.

Practice and reflection on the integrated transport of critically ill newborns in the Yangtze River Delta

LI Wanying, ZHANG Yi, DU Ying, et al

Journal of Clinical Pediatrics. 2021, 39(1): 31. doi:10.3969/j.issn.1000-3606.2021.01.008

Abstract ( 271 )

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Objective? To summarize and analyze the transport of critically ill newborns in the Yangtze River Delta. Methods? The general data and outcome of critically ill newborns transported from Yangtze River Delta region to Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine from 2016 to 2019 were analyzed retrospectively. Results A total of 3508 critically ill newborns were transported and the top three diagnosed diseases were congenital heart disease, neonatal pneumonia and neonatal jaundice. Among the newborns transported, recovery accounted for 2 . 48 %, improvement for 90 . 13 %, automatic discharge for 6 . 7 %, and death for 0 . 68 %. Conclusion There is an urgent need to establish an integrated collaborative network for the transport of critically ill newborns in the Yangtze River Delta.

The relationship of blood concentration of mycophenolate mofetil with disease activity, disease recurrence, and adverse reactions in systemic lupus erythematosus children

LI Yifan, LIU Haimei, ZHANG Tao, et al

Journal of Clinical Pediatrics. 2021, 39(1): 34. doi:10.3969/j.issn.1000-3606.2021.01.009

Abstract ( 518 )

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Objective To explore the relationship of the area under the mycophenolic acid concentration-time curve (MPA AUC) with disease activity, disease recurrence and adverse drug reactions of mycophenolate mofetil (MMF) in the treatment of childhood systemic lupus erythematosus (SLE). Methods The clinical data of SLE children who underwent MMF blood concentration test from January 2017 to June 2019 were retrospectively analyzed. The treatment regimens for the children in the last half year were hormone combined with MMF and hydroxychloroquine, and the dose of MMF was 20 - 40 mg/(kg·d). According to SLE disease activity score (SLEDAI), recurrence and adverse reactions and the levels of MPA AUC were compared among the groups. According to the level of MPA AUC, the patients were divided into three groups, and the disease activity and adverse reactions among the three groups were compared. Results A total of 81 ( 20 boys and 61 girls) children were enrolled and the median age was 13 . 1 ( 11 . 0 - 14 . 4 ) years. According to the 3 month-SLEDAI, 67 children were included in the inactive group and 14 were included in the active group. Compared with the inactive group, age at onset was younger, albumin and creatinine levels were lower and eGFR was higher in active group, and the differences were statistically significant (all P< 0 . 05 ). The MPA AUC0 - 12 h at 3 -month follow-up and 6 -month follow-up in the inactive group were higher than those in the active group, and the difference was statistically significant (P< 0 . 05 ). There were statistically significant differences in SLEDAI among the low, medium and high AUC groups at 3 month and 6 month follow-up, and the SLEDAI in low AUC group were the highest. The level of MPA AUC in the relapsed group was lower than that of the non-relapsed group, and the difference was statistically significant (P= 0. 001 ). The cut-off point of MPAAUC was 43. 03 mg /(h·L) when the ROC curve was used to predict the recurrence. The AUC was 0 . 89 (P= 0 . 001 ), the sensitivity was 100% and the specificity was 69 . 8%. Conclusions? It is important to monitor MPA AUC in the treatment of childhood SLE with MMF. There was a negative correlation between MPA AUC and disease activity. The serum concentration of mycophenolic acid higher than 43 . 03 mg/(hL) can maintain the low activity level of SLE and reduce disease recurrence, but excessive concentration does not improve disease activity.

Gitelman syndrome concurrent with nephrotic syndrome: a case report and literature review

LIAO Panli , RAO Jia, SHEN Qian, et al

Journal of Clinical Pediatrics. 2021, 39(1): 40. doi:10.3969/j.issn.1000-3606.2021.01.010

Abstract ( 507 )

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Objective To explore the diagnosis and treatment of Gitelman syndrome caused by SLC 12 A3 gene mutation. Methods? The clinical data of Gitelman syndrome concurrent with primary nephrotic syndrome in a child were retrospectively analyzed, and the related literature was systematically reviewed. Results A 6 -year-old male child presented with recurrent nephrotic syndrome, persistent hypokalemia, increased urinary sodium and potassium excretion, hypomagnesemia, metabolic alkalosis, hypocalciuria and activated renin angiotensin-aldosterone system. There was no abnormal blood pressure, no history of special medication and no family history. Whole exome sequencing revealed that the child had a homozygous missense mutation of c.179C>T (p.T60M) in exon 1 of SLC 12 A3 gene on chromosome 16, and both of his parents were carriers. It was determined to be a pathogenic mutation by ACMG score. The child was diagnosed of nephrotic syndrome concurrent with Gitelman syndrome. By reviewing the literature, Gitelman syndrome may be associated with proteinuria. Conclusion? Importance should be recognized in the evaluation and follow-up of proteinuria in Gitelman syndrome and protection of the renal function.

Clinical and cytogenetic analysis of Pallister-Killian syndrome: a case report

LI Xing, LUN Miaoxu, CAI Chanhui, et al

Journal of Clinical Pediatrics. 2021, 39(1): 44. doi:10.3969/j.issn.1000-3606.2021.01.011

Abstract ( 418 )

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Objective To explore the cytogenetic characteristics of Pallister-Killian syndrome (PKS). Methods Peripheral blood samples were collected for G-banding karyotype analysis. The source of abnormal fragments was identified by single nucleotide polymorphism-microarray (SNP array), and then confirmed by fluorescence in situ hybridization (FISH). Results An 8 -month-old girl visited the doctor for psychomotor retardation. She suffered from feeding difficulties, low muscle tension, abnormal facial appearance, low hairline, foot deformity, hearing loss and other clinical manifestations after birth. The G-banded karyotyping of peripheral blood chromosome showed mos 47, XX, +mar [ 18 ]/ 46, XX[ 82 ]. Affymetrix CytoScan 750K array analysis showed a mosaic duplication of the whole short arm of chromosome 12, indicating to be the 12p tetrasomy. FISH analysis confirmed that 48% of cells had four 12p signals. Conclusion? According to the clinical manifestations and routine peripheral blood karyotype analysis combined with SNP-array and FISH detection, PKS was diagnosed.

ZFP57 gene-related neonatal transient diabetes in twins: a case report and literature review

LIU Yu, DUAN Wei

Journal of Clinical Pediatrics. 2021, 39(1): 47. doi:10.3969/j.issn.1000-3606.2021.01.012

Abstract ( 291 )

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Objective To explore the clinical and gene mutation characteristics of transient neonatal diabetes mellitus (TNDM) caused by ZFP 57 gene mutation. Methods The clinical data and gene sequencing results of a pair of TNDM twins caused by ZFP57 gene mutation admitted in December 2019 were retrospectively analyzed. At the same time, the CNKI database, Wanfang database and PubMed database were searched by the time range from the establishment of the database to February 2020 , and relevant literatures were reviewed. Results Both twins were female and had hyperglycemia within 24 hours after birth, accompanied by giant tongue and umbilical hernia. Genetic tests revealed that both fetuses had two heterozygous mutations in ZFP57 gene, the frameshift variant of c. 458 delT originated from the mother and the missense variant of 830 A>G (p.H 277R) originated from the father. Conclusion The ZFP57 gene is an important determinant in the diagnosis of TNDM and also a key factor in understanding the genetic drivers of multilocus imprinting disturbance (MLID).

Cornelia de Lange syndrome caused by HDAC8 gene mutation: a case report

DONG Yan, SHI Xiaoyi, XU Ruijuan, et al

Journal of Clinical Pediatrics. 2021, 39(1): 51. doi:10.3969/j.issn.1000-3606.2021.01.013

Abstract ( 578 )

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Objective To explore the clinical phenotype and genotype characteristics of Cornelia de Lange syndrome (CdLS). Methods The clinical data of Cornelia de Lange syndrome (CdLS) in a child were retrospectively analyzed, and the reported cases in domestic were summarized and analyzed. Results The 1 -year- 2 -month-old female child had special appearance, mental and motor retardation, limb deformity and hearing abnormality. A new heterozygous nonsense mutation of c. 675C>A (p.Y 225 X) was found in the HDAC 8 gene. According to ACMG guidelines, the mutation was predicted to be pathogenic, and CdLS was confirmed. The databases of Wanfang, Weipu, CNKI, and PubMed were searched, and 46 cases of CdLS were reported in China. Among the 26 children who underwent genetic examination, 20 ( 76 . 9 %) had NIPBL gene mutation, 3 ( 11 . 5 %) had HDAC8 gene mutation and 1 ( 3 . 8 %) had SCM1A gene mutation. Two patients had no pathogenic gene variations that were consistent with their clinical manifestations, and the phenotypes were different. Conclusion Children with CdLS have special appearance, growth retardation, multiple organ involvement, and hearing impairment. Most of them can be diagnosed by typical clinical phenotypes. Gene testing can help early diagnosis of atypical patients.

Asparagine synthetase deficiency: a case report and literature review

SUO Guihai, TANG Jihong, FENG Jun, et al

Journal of Clinical Pediatrics. 2021, 39(1): 55. doi:10.3969/j.issn.1000-3606.2021.01.014

Abstract ( 824 )

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Objective? To explore the clinical and genetic variation characteristics of asparagine synthetase deficiency (ASNSD). Method The clinical data of ASNSD in a child was analyzed and relevant literature was reviewed. Results A 5 -year- 3 -month-old girl presented with severe psychomotor retardation and recurrent seizures. Cranial MRI showed supratentorial ventricular dilatation, brain atrophy and thin corpus callosum. Whole exome sequencing showed that there were compound heterozygous variants in the ASNS gene of the child, which were the codon variant of c. 1503 _ 1505 delAGC from the father and the missense variant of c. 776 G>C from the mother. The mutation was reported for the first time, and bioinformatics softwares (Provean and mutationtaster) predicted that it was pathogenic. Conclusion? Gene detection is helpful for the diagnosis of ASNSD, and the gene variation spectrum of ASNSD was expanded in this case.

Efficacy of recombinant human growth hormone therapy in familial short stature with ACAN gene variants and review of literature

ZHAO Lili , ZHU Yilin, YUAN Ke, et al

Journal of Clinical Pediatrics. 2021, 39(1): 59. doi:10.3969/j.issn.1000-3606.2021.01.015

Abstract ( 1045 )

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Objective ACAN gene is one of the most frequently mutated genes in familial short stature (FSS), which has key roles in endochondral ossification and maintaining the biological function of cartilage. To observe the efficacy of recombinant human growth hormone (rhGH) for increasing the height of children of FSS with ACAN gene variants. Methods Clinical data obtained from 2 pedigrees of FSS caused by ACAN gene variants at our institution were retrospectively analyzed. Relevant electronic databases were searched for studies assessing the therapeutic effect of rhGH in children of FSS with ACAN gene variants. Results? The proband of family 1 was a 4 -year and 1 -month-old boy and without skeletal deformity, when his height was 90 . 5 cm (-3 . 6 SD) and weight 13 . 5 kg. His bone age was 5 years and 6 months. Genetic testing identified a heterozygous deletion mutation in ACAN gene (c. 5026 _ 5027 del, p. Ser 1676 Ter). His height increased by 13 cm (Ht: 103 . 5 cm, -1 . 8 SD) in the first year of treatment with rhGH ( 50 μg·kg- 1 ·d- 1 ) and height increased by 17 . 1 cm (Ht: 107 . 6 cm, -1 . 7 SD) after 18 months of treatment. The proband of family 2 was a 3-year-old boy without skeletal deformity, when his height was 82cm (-3.9 SD) and weight 12 kg. His bone age was 1 year and 6 months. Genetic testing identified a heterozygous missense mutation in ACAN gene (c.1504C>T, p.R502C). His height increased by 12cm (Ht:94cm, -2.6 SD) in the first year of treatment with rhGH (33 μg·kg- 1 ·d- 1 ) and height increased by 17 cm (Ht: 99 cm, -2 . 68 SD) after 22 months of treatment. Conclusion? Heterozygous deletion mutation(c.5026 _ 5027 del) and heterozygous missense mutation(c.1504 C>T) of ACAN gene can cause FSS. rhGH therapy can effectively improve the height of children of FSS with ACAN gene variants in the short term. It is recommended to detect gene in patients of FSS and to treat the disease with rhGH as early as possible.

Pathogenic gene detection in restrictive cardiomyopathy: a case report

YANG Yi, XIE Lijian, XIAO Tingting, et al

Journal of Clinical Pediatrics. 2021, 39(1): 65. doi:10.3969/j.issn.1000-3606.2021.01.016

Abstract ( 477 )

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Objective To explore the clinical phenotype and genotype of suspected restrictive cardiomyopathy caused by TNNI 3 gene mutation. Method The clinical data from a child suspected of restrictive cardiomyopathy were retrospectively analyzed. Results A 4 -year- 8 -month-old girl was admitted to hospital due to cough, fever and abnormal electrocardiogram. The electrocardiogram showed heavy load in both atria and high left ventricle voltage. Echocardiography showed whole heart enlargement with weakened motion, cardiac insufficiency, pericardial effusion (small amount), mitral regurgitation (moderate reflux) and pulmonary hypertension. Two months before admission, the child had a history of cyanosis when he went upstairs. Genetic test indicated that the child had a heterozygous mutation of c. 575 G>A which was a new mutation in TNNI 3 gene, and her parents did not carry the mutation. This mutation caused the arginine at position 192 of the TNNI 3 to be replaced by histidine. Multi-species comparison found that this site was highly conserved. Various prediction softwares suggested that the mutation was deleterious. Conclusion? The heterozygous mutation of c. 575 G>A (p.Arg 192 His) in TNNI 3 gene was likely to be the pathogenic mutation of the child.

A case report of Charcot-Marie-Tooth disease in pedigree and literature review

ZHANG Tong, TANG Jihong

Journal of Clinical Pediatrics. 2021, 39(1): 69. doi:10.3969/j.issn.1000-3606.2021.01.017

Abstract ( 408 )

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Objective To explore the clinical features and diagnostic methods of Charcot-Marie-Tooth disease type 1 A (CMT 1 A). Methods The clinical manifestations, neuroelectrophysiology and genetic test results of a family with CMT 1 A were retrospectively analyzed. Results A 12 -year-old boy was admitted to hospital because of lower limbs weakness. Limbs hypotonia, level V of the proximal limbs myodynamia, level Ⅳof the distal muscle, symmetry atrophy of the muscle under the knee joint and the double distal upper limb muscles, symmetric limbs hypoesthesia, knee jerk and ankle reflex disappears, high arches feet. EMG examination indicated that the nerve conduction velocity slowed down. Gene detection results: Heterozygous duplication of exon 1 - 5 of PMP 22 gene was detected. All the patients showed high arch foot, leg muscle atrophy and limb weakness. EMG of the mother indicated decreased nerve conduction velocity, and gene test indicated heterogenous duplication of the EXon 1-5 of PMP22 gene. Conclusion CMT1A is related to the variation of PMP22 gene, which is autosomal dominant. The most common mutation is 1. 4 MB - 1. 5 MB repeated mutation. Clinical manifestations include progressive limb weakness, muscle atrophy, diminished or absent tendon reflexes, foot deformities, and paresthesia. Electromyography with MNCV less than 38 m/s and genetic test with PMP22 duplication can be diagnostic. Treatments including PXT3003 and phosphatidyl choline and phosphatidyl ethanolamine diet has being in clinical trials.

Research progress in primary immunodeficiency disease caused by CARD11 mutation

HU Wenhui, HUANG Ying

Journal of Clinical Pediatrics. 2021, 39(1): 74. doi:10.3969/j.issn.1000-3606.2021.01.018

Abstract ( 1222 )

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The Caspase activation and recruitment domain 11 (CARD 11 ) encodes a scaffold protein which plays an important role in multiple signaling pathways participated by antigen recognition receptors of T cells and B cells, including nuclear transcription factors, c-Jun N-terminal kinase and mammalian rapamycin target protein signaling pathway. The germline variation of CARD11 causes three different primary immunodeficiency diseases, including profound combined immunodeficiency (biallelic loss-of-function mutations), B-cell expansion with nuclear factor κB and T cell anergy (heterozygous, gain-of-function mutations) and severe atopic disease with diverse immunologic phenotypes (heterozygous, dominant negative mutations). Since the clinical manifestations of diseases caused by different CARD 11 germline variations are diverse, it is necessary to conduct functional verification experiments on rare variations to determine their pathogenicity. This article reviews the genotypes, clinical and immunophenotypes, and treatments of CARD11 variant-related diseases.

Instruction for Journal of Clinical Pediatrics

Journal of Clinical Pediatrics. 2021, 39(1): 78. doi:10.3969/j.issn.1000-3606.2021.01.019

Abstract ( 322 )

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