Table of Content

15 October 2020 Volume 38 Issue 10

  

Effect of exchange transfusion in the treatment of pertussis in children with hyperleukocytemia

GAN Chuan, WU Xiaoying, XU Hongmei, et al

Journal of Clinical Pediatrics. 2020, 38(10):  721.  doi:10.3969/j.issn.1000-3606.2020.10.001

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Objective To explore the effect and timing of exchange transfusion on the treatment of pertussis in hyperleukocytemia. Method? The?effects?of?exchange?transfusion?and?other?treatments?in?pertussis?children?with?the?highest? white?blood?cell?count?(WBC)?of?>50×109/L?were?retrospectively?analyzed.?Results? A?total?of?72?children?with?pertussis?(24? boys?and?48?girls),?with?the?highest?WBC?of?>50×109/L?were?studied.?They?were?divided?into?the?exchange?transfusion?group?(17? cases)?and?the?non-exchange?transfusion?group?(55?cases).?Compared?with?the?non-exchange?transfusion?group,?the?interval?from? onset?to?admission?was?shorter,?the?incidence?of?severe?pneumonia?and?heart?failure?was?higher,?and?the?highest?WBC?was?higher? in?the?exchange?transfusion?group?(P<0.05).?The?distribution?of?the?highest?WBC?was?statistically?significant?different?between? the?two?groups?(P<0.01),?and?the?proportion?of?the?highest?WBC?≥70×109/L?in?the?exchange?transfusion?group?was?higher.?The? decrease?rate?of?WBC?in?children?with?the?highest?WBC?≥70×109/L?in?the?exchange?transfusion?group?was?higher?than?that?in?the? non-exchange?transfusion?group,?and?the?difference?was?statistically?significant?(P<0.05).?When?the?ROC?curve?of?the?highest? WBC?was?plotted?to?predict?pertussis?death?in?the?non-exchange?transfusion?group,?it?was?found?that,?at?the?optimal?critical?value? of?WBC?71.9×109/L,?the?sensitivity?and?specificity?of?the?prediction?of?death?were?80%?and?90%,?and??AUC?was?0.89?(95%?CI: 0.74~1.00,?P=0.004).?Conclusions? Exchange?transfusion?is?an?effective?treatment?to?reduce?WBC,?but?its?effect?on?improving? clinical?symptoms?is?not?clear.?When?WBC?is?(50~71.9)×109/L,?other?indicators?need?to?be?considered?for?whether?exchange? transfusion?should?be?applied.?When?WBC?≥71.9×109/L,?transfusion?therapy?may?be?required.?

The level of antibodies to Bordetella pertussis among pregnant women and their newborns in Jinan area

LIU Yanqin, WANG Li, YU Huafeng, et al

Journal of Clinical Pediatrics. 2020, 38(10):  726.  doi:10.3969/j.issn.1000-3606.2020.10.002

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Objective? To?explore?the?pertussis?antibody?levels?of?mothers?of?different?ages?and?their?newborns.? Methods Enzyme-linked?immunosorbent?assay?was?used?to?detect?the?pertussis?antibody?levels?in?the?peripheral?blood?of?100? pairs?of?healthy?mothers?of?different?ages?and?the?umbilical?cord?blood?(newborn?side)?of?their?newborns.?Results The median levels?of?pertussis?IgG?antibodies?in?women?born?in?the?1970s,?1980s?and?1990s?were?7.99?IU/mL,?5.00?IU/mL?and?5.71?IU/ mL,?respectively,?and?the?difference?among?the?three?groups?were?statistically?significant?(P<0.05).?Serum?pertussis?IgG?antibody? was?negative?in?97%?of?the?mothers?and?negative?in?92%?of?the?newborns.?There?was?a?positive?correlation?between?maternal? serum?pertussis?IgG?antibody?levels?and?neonatal?umbilical?cord?blood?pertussis?IgG?antibody?levels?(r=0.76， P<0.001).? Conclusion? Current?maternal?pertussis?antibodies?cannot?protect?women?from?pertussis?infection,?and?the?protective?effect?of?fetal? antibodies?obtained?from?the?mother?is?weak.?Further?adjustment?of?immunization?strategies?to?prevent?pertussis?may?be?considered.?

Clinical analysis of pulmonary abscess in 94 children

TAN Jing, LI Zhuxia, LEI Yinlan, et al

Journal of Clinical Pediatrics. 2020, 38(10):  730.  doi:10.3969/j.issn.1000-3606.2020.10.003

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Objective? To?explore?the?diagnosis?and?treatment?of?pulmonary?abscess?in?children.?Method The clinical data?of?pulmonary?abscess?in?94?children?were?retrospectively?analyzed.?Results? There?were?totally?94?children?(57?boys?and? 37?girls)?with?a?median?age?of?2.3?years?(1?month?to?17?years?and?5?months),?including?54?children?with?primary?pulmonary? abscess?and?40?children?with?secondary?pulmonary?abscess.?The?common?symptoms?were?fever,?cough,?shortness?of?breath,? dyspnea?and?chest?pain.?Compared?with?primary?pulmonary?abscess?group,?the?proportion?of?albumin?<30?g/L?and?the?level?of? CRP?were?higher?in?the?secondary?lung?abscess?group?(P<0.05).?Sixty-six?children?were?detected?positive?for?pathogens,?and?81? strains?were?detected.?Streptococcus pneumoniae and Mycoplasma pneumoniae?were?the?main?pathogens?in?primary?pulmonary? abscess?group,?while?Staphylococcus aureus,?Streptococcus pneumoniae and Klebsiella pneumoniae?were?the?main?pathogens?in? secondary?pulmonary?abscess?group.?All?94?patients?were?treated?with?antibiotics,?2?with?antifungal?therapy?and?18?with?surgery.? Ninety-one?children?were?discharged?after?remission.?Three?patients?had?poor?outcomes?(2?gave?up?treatment?and?1?died)?and?all? of?them?were?secondary?pulmonary?abscesses.?Compared?with?the?primary?pulmonary?abscess?group,?the?secondary?pulmonary? abscess?group?had?a?higher?proportion?of?ICU?cases?and?longer?hospital?stay,?and?the?differences?were?statistically?significant? (P<0.05).?Conclusion? Children?with?primary?and?secondary?pulmonary?abscesses?are?commonly?infected?with?Streptococcus pneumoniae and Staphylococcus aureus,?respectively,?and?the?antibiotic?treatment?is?required,?and?surgery?is?required?in?some? cases.?Secondary?pulmonary?abscess?has?more?severe?symptoms?and?longer?treatment?time?than?primary?pulmonary?abscess.

Effect of heparin combined with warfarin in the treatment of thrombogenesis in children

DU Qingxia, LI Lei, BIE Wenhui, et al

Journal of Clinical Pediatrics. 2020, 38(10):  736.  doi:10.3969/j.issn.1000-3606.2020.10.004

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Objective? To?explore?the?common?causes?of?thrombogenesis?in?children?and?observe?the?anticoagulant? effect?of?heparin?combined?with?warfarin.?Methods? The?clinical?data?of?children?diagnosed?with?thrombosis?and?receiving? anticoagulant?treatment?of?heparin?combined?with?warfarin?from?March?2017?to?March?2019?were?analyzed?retrospectively.? According?to?the?target?value?of?international?standardized?ratio?(INR)?during?treatment,?the?children?were?divided?into?INR? 1.0~1.5?group,?INR?1.5~2.0?group?and?INR>2.0?group,?and?the?duration?and?efficacy?of?anticoagulation?therapy?among?the?three? groups?were?compared?and?analyzed.?Results? Sixty-four?children?were?included?(40?males?and?24?females),?and?29?patients? (45.3%)?were?younger?than?2?years?old.?The?primary?diseases?were?mainly?hematological?tumor?diseases?(36?cases,?56.2%)?and? cardiovascular?diseases?(20?cases,?31.2%).?Thrombogenesis?was?caused?by?central?venous?catheterization?in?38?cases?(59.38%),? peripheral?arteriovenous?puncture?in?12?cases?(18.75%),?severe?infection?in?4?cases?(6.25%),?tumor?in?4?cases?(6.25%),?femoral? venous?catheterization?in?2?cases?(3.12%),?arrhythmia?in?2?cases?(3.12%),?and?coronary?artery?disease?of?Kawasaki?disease?in?2? cases?(3.12%).?There?were?20?cases?in?the?INR?1.0~1.5?group?(11?males?and?9?females),?28?cases?in?the?INR?1.5~2.0?group?(18? males?and?10?females),?and?13?cases?in?the?INR>2.0?group?(9?males?and?4?females).?There?was?a?statistically?significant?difference? in?the?median?time?of?anticoagulation?treatment?among?the?three?groups?(P<0.05).?In?pairwise?comparison,?the?anticoagulation? treatment?time?in?the?INR?1.5~2.0?group?was?significantly?shorter?than?that?in?the?INR?1.0~1.5?group,?and?the?difference?was? statistically?significant?(P=0.014).?Conclusion? Anticoagulation?is?the?main?method?for?the?treatment?of?thrombogenesis?in? children?and?its?efficacy?is?good.?Low-dose?warfarin?anticoagulation?can?inhibit?thrombogenesis?and?there?is?no?need?to?adjust? INR?to?>2.0.

A retrospective cohort study on gene variation and clinical features of steroid resistant nephrotic syndrome in children

CAI Xiaoyi, DENG Huiying, CHEN Ye, et al

Journal of Clinical Pediatrics. 2020, 38(10):  740.  doi:10.3969/j.issn.1000-3606.2020.10.005

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Objective? To?explore?the?gene?variation?and?clinical?characteristics?of?steroid?resistant?nephrotic?syndrome? (SRNS).?Methods? The?clinical?data?of?58?children?with?SRNS?diagnosed?by?whole?exon?sequencing?(WES)?from?May? 2015?to?June?2019?were?retrospectively?analyzed,?and?the?clinical?indicators,?renal?pathological?types,?remission?rate?of? immunosuppressive?therapy?and?renal?survival?time?were?compared?between?children?with?or?without?gene?mutation.?Results? In? 58?children?with?SRNS?(35?boys?and?23?girls),?the?age?at?onset?ranged?from?1?month?to?12?years.?Gene?variation?was?detected? in?31?cases,?mainly?WT1?and?NPHS1.?The?incidence?of?renal?insufficiency?in?31?cases?with?gene?mutation?was?significantly? higher?than?that?in?27?cases?without?gene?mutation?(P<0.05).?The?complete?remission?rate?of?children?without?gene?mutation?was? 73.08%,?which?was?significantly?higher?than?that?of?children?with?gene?mutation?(41.18%),?and?the?difference?was?statistically? significant?(P<0.05).?The?kidney?survival?time?of?children?with?genetic?mutation?was?(39.40±6.95)?months,?as?compared? with?(58.90±4.87)?months?in?children?without?genetic?mutation?was,?and?the?difference?was?statistically?significant?(χ2=9.98,? P<0.01).?Conclusion? Gene?detection?is?of?great?significance?in?etiological?diagnosis,?treatment,?prognosis?and?recurrence? prediction?after?renal?transplantation?in?children?with?SRNS.

Comparative analysis of clinical characteristics between Kawasaki disease and systemic macrophage activation syndrome and systematic-onset juvenile idiopathic arthritis

ZHOU Weiran, LIU Xuemei, DONG Linlin, et al

Journal of Clinical Pediatrics. 2020, 38(10):  744.  doi:10.3969/j.issn.1000-3606.2020.10.006

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Objective? To?explore?the?comparison?of?the?clinical?features?between?Kawasaki?disease?(KD)?and?systematiconset?juvenile?idiopathic?arthritis?(SJIA)?with?macrophage?activation?syndrome?(MAS).?Method The clinical data of 5 cases of KD-MAS?and?8?cases?of?SJIA-MAS?children?admitted?from?September?2015?to?September?2019?were?retrospectively?analyzed.? Results? The?children?with?KD-MAS?were?all?male,?aged?from?5?months?to?7?years?and?10?months.?In?the?SJIA-MAS?group,?8? children?(3?boys?and?5?girls)?aged?from?1?year?and?2?months?to?11?years?had?10?times?of?MAS?in?total,?among?whom,?one?boy? and?one?girl?had?two?times?of?MAS?respectively,?and?the?age?at?recurrence?was?6?years?and?7?months,?and?8?years?and?5?months,? respectively.?The?main?clinical?manifestations?of?all?the?children?were?persistent?high?fever.?Comparison?of?laboratory?indicators? showed?that?ferritin?level?was?correlated?with?LDH?level?(r=0.071,?P=0.03).?The?median?ferritin?was?14900?ng/mL?and?the? median?LDH?was?1264.5?U/L?in?the?SJIA-MAS?group.?The?median?ferritin?and?LDH?in?the?KD-MAS?group?was?736?ng/ml?and? 492?U/L?respectively,?and?the?differences?between?the?two?groups?were?statistically?significant?(both?P<0.05).?One?case?in?the? KD-MAS?group?and?3?cases?in?the?SJIA-MAS?group?underwent?genetic?testing,?and?no?HLH-related?genes?were?detected.?The? condition?of?all?children?were?able?to?be?effectively?controlled.?Conclusion? LDH?may?serve?as?another?sensitive?indicator?for? early?identification?of?MAS?in?addition?to?ferritin.?There?are?differences?between?KD-MAS?and?SJIA-MAS?in?ferritin?and?LDH? levels.?The?application?of?SJIA-MAS?2016?diagnostic?criteria?to?diagnose?KD-MAS?is?more?sensitive.?KD-MAS?can?achieve? better?curative?effect?through?glucocorticoid?treatment,?and?the?prognosis?is?better?than?SJIA-MAS.

Clinical analysis of metabolic bone disease in 6 premature infants with fracture

LIU Yingli, ZHOU Lin, ZHANG Yonghong, et al

Journal of Clinical Pediatrics. 2020, 38(10):  749.  doi:10.3969/j.issn.1000-3606.2020.10.007

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Objective? To?explore?the?clinical?features?of?metabolic?bone?disease?with?fracture?in?preterm?infants.? Method? The?clinical?data?of?metabolic?bone?disease?with?fractures?in?6?neonates?admitted?from?January?2016?to?April?2020?were? retrospectively?analyzed.?Results? Among?the?6?newborns?(5?boys?and?one?girl),?the?median?gestational?age?was?27.1?weeks,? and?the?median?birth?weight?was?900?g.?Among?the?6?newborns,?multiple?costal?fractures?occurred?in?one?case,?left?humeral? fracture?occurred?in?one?case,?left?femoral?fracture?occurred?in?two?cases,?femoral?and?humeral?fracture?occurred?in?two?cases,? and?right?humeral?fracture?occurred?in?one?case.?The?blood?phosphorus?of?the?6?newborns?were?all?<1.8?mmol/L,?and?the?blood? alkaline?phosphatase?were?all?>600?IU/L,?and?the?blood?calcium?were?in?the?normal?range.?All?the?6?neonates?were?complicated? with?retinopathy?of?prematurity?and?bronchopulmonary?dysplasia,?and?one?was?complicated?with?necrotizing?enterocolitis.?After? active?treatment?with?calcium,?phosphorus?and?vitamin?D3,?6?neonates?were?discharged?from?hospital?after?recovery?from?fracture.? Conclusion? Premature?infants?with?very?low?birth?weight?should?pay?attention?to?avoid?metabolic?osteopathy?complicated?with? fracture.

Incomplete Kawasaki disease with initial symptoms of fever and jaundice: a report of 2 cases and literature review

MA Yingying, PENG Shao, CHU Weihong, et al

Journal of Clinical Pediatrics. 2020, 38(10):  754.  doi:10.3969/j.issn.1000-3606.2020.10.008

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Objective　To?explore?the?clinical?features?of?incomplete?Kawasaki?disease?(IKD)?with?first?symptoms?of? fever?and?jaundice.?Method　The?clinical?data?of?incomplete?KD?with?the?first?symptoms?of?fever?and?jaundice?in?2?cases?were? retrospectively?analyzed,?and?relevant?literature?was?reviewed.?Results　In?two?patients?(3-year-?and?9-month-old?boy?and?a? 10-year-old?girl),?the?main?early?symptoms?were?fever,?yellowish?skin,?lymphadenopathy?and?bulbar?conjunctival?hyperemia,? and?no?rash.?They?presented?with?periungual?and?perianal?desquamation?and?coronary?artery?ectasia?at?the?later?stage.?The?boy? developed?oculomotor?palsy?and?gamma?globulin?resistance,?and?the?girl?developed?KD?shock?syndrome.?Conclusion　The diagnosis?in?IKD?children?with?fever?and?jaundice?as?the?first?symptoms?may?be?delayed?due?to?atypical?symptoms.

Antimicrobial resistance and resistance genes analysis of extended-spectrum β-lactamase producing Klebsiella pneumoniae in children with severe infection

QIU Haiyan, WU Junhua

Journal of Clinical Pediatrics. 2020, 38(10):  757.  doi:10.3969/j.issn.1000-3606.2020.10.009

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　Objective? To?understand?the?distribution?of?drug?resistance?and?genotype?of?extended-spectrum?β-lactamase? (ESBL)-producing?Klebsiella pneumoniae?(KP)?in?children?with?severe?infection.?Methods? KP?routinely?separated?in?intensive? care?unit?was?collected,?and?ESBLs?detection?was?conducted?by?double-paper?cooperative?test.?Drug?sensitivity?detection?was? conducted?by?microbroth?dilution?method,?and?drug?resistance?genes?including?intl1,?acc,?ampC,?CTX-M1,?CTX-M3,?DHA1,? OXA,?shv,?tem,?NDM,?DHA1,??fox and per?were?detected?by?polymerase?chain?reaction?(PCR).?Results? A?total?of?143?KP?strains? were?isolated?mainly?from?respiratory?specimens?(81.8%),?73.4%?of?which?were?sputum?specimens.?The?78?strains?of?ESBLs? KP?showed?varying?degrees?of?resistance?to?24?antibiotics,?and?the?rates?of?resistance?to?ampicillin,?cefazolin?and?piperacillin?were? up?to?100%.?The?rate?of?resistance?to?aztreonam,?ceftriaxone?and?tetracycline?were?over?74%.?The?rates?of?sensitivity?to?amikacin,? donipenem,?ertapenem,?meropenem,?tigecycline?and?nitrofurantoin?were?all?100%,?and?one?KP?strain?resistant?to?imipenem?was? detected.?The?drug?resistance?gene?test?showed?that?DHA1,?Shv,?Tem,?CTX-M1,?CTX-M3 and Intl1?were?all?detected?to?varying? degrees,?and?the?detection?rate?of?Shv?was?as?high?as?87.2%.?Strains?with?2,?3?and?≥4??resistant?genes?accounted?for?30.7%,? 62.8%?and?24.4%,?respectively.?Conclusion? The?rate?of?ESBLs?producing?KP?in?severe?infection?children?is?high?and?the? pattern of multidrug resistance is complex.

Application of splenectomy in Wiskott-Aldrich syndrome with eczema and thrombocytopenia in children

DAI Rongxin, LI Wenyan, DU Xiao, et al

Journal of Clinical Pediatrics. 2020, 38(10):  760.  doi:10.3969/j.issn.1000-3606.2020.10.010

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Objectives　To?explore?the?effect?of?splenectomy?on?the?prognosis?of?Wiskott-Aldrich?syndrome?(WAS)?with? eczema?and?thrombocytopenia.?Method　The?clinical?data?of?mild?WAS?syndrome?in?a?child?who?underwent?splenectomy?in?2015? were?retrospectively?analyzed,?and?the?relevant?literature?was?reviewed.?Results　A?boy?had?multiple?episodes?of?skin?and?mucous? membrane?bleeding?and?gastrointestinal?bleeding?after?birth,?and?the?lowest?platelet?count?was?3×109/L.?X-linked?thrombocytopenia? (XLT)?was?diagnosed?by?genetic?testing?at?the?age?of?12?years.?Splenectomy?was?performed?at?the?age?of?16?years?due?to?the? recurrence?of?skin?and?mucosal?bleeding.?No?targeted?vaccinations?were?given?before?and?after?the?operation.?On?the?2nd?day? after?splenectomy,?the?platelet?count?rose?to?normal.?On?the?26th?day?after?operation,?the?patient?developed?fever,?skin?and?mucous? membrane?hemorrhage,?accompanied?by?severe?thrombocytopenia,?so?he?was?diagnosed?with?severe?sepsis.?After?anti-infection?and? supportive?treatment?for?nearly?3?months,?the?temperature?was?gradually?stabilized,?respiratory?symptoms?was?improved,?and?platelet? count?was?stabilized?to?a?normal?level.?It?had?been?reported?that?platelet?counts?in?WAS?and?XLT?children?undergoing?splenectomy? could?rise?to?normal?levels,?but?these?children?were?at?risk?of?severe?postoperative?infection.?Conclusion Splenectomy is one of the?alternative?treatment?options?for?XLT?patients?with?refractory?thrombocytopenia?and?with?difficulty?in?conventional?treatment.? Prophylactic?vaccination?and?prophylactic?use?of?antibiotics?are?necessary?before?surgery.?

Clinical and gene mutation analysis of paroxysmal exercise-induced dyskinesia in one family

HU Shuxiang, LI Pei, WANG Yangdan, et al

Journal of Clinical Pediatrics. 2020, 38(10):  765.  doi:10.3969/j.issn.1000-3606.2020.10.011

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Objective? To explore the clinical manifestations and SLC2A1 gene mutation in paroxysmal exercise-induced dyskinesia?(PED).?Methods? The?clinical?data?of?the?proband?and?his?families?were?collected.?The?genomic?DNA?of?the?proband? was?sequenced?by?high-throughput?sequencing.?The?specific?coding?region?on?SLC2A1 ?gene?of?the?proband?and?his?families?were? amplified?by?polymerase?chain?reaction?and?verified?by?the?first-generation?sequencing.?Results? The?proband?was?an?11-yearold?male?who?developed?dyskinesia?after?exercising?at?the?age?of?8.?Gene?sequencing?showed?that?the?proband?had?heterozygous? variation?of?c.?940G>A?(p.?Gly314Ser)?in?exon?7?of?SLC2A1?gene.?It?was?confirmed?as?the?pathogenic?site?by?pathogenicity? analysis?according?to?the?guidelines?of?American?College?of?Medical?Genetics?and?Genomics?(ACMG).?The?younger?brother,?father， and aunt of?the?proband?all?had?the?same?heterozygous?mutation?as?the?proband.?The?younger?brother?of?the?proband?manifested?epilepsy.? His?father?and?aunt?also?manifested?PED.?Conclusion The SLC2A1?gene?mutation?and?genetic?characteristics?of?the?family?were? clarified,?and?the?newly?discovered?mutation?site?of?c.?940G>A?(p.?Gly314Ser)?enriched?the?SLC2A1 gene mutation spectrum.

The oral-facial-digital type Ⅰsyndrome: a case report and literature review

BAO Lisha, LI Jing, LIU Fang

Journal of Clinical Pediatrics. 2020, 38(10):  769.  doi:10.3969/j.issn.1000-3606.2020.10.012

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Objective? To?explore?the?clinical?and?genetic?variation?characteristics?of?the?oral-facial-digital?type?I syndrome. Method? The clinical data and gene test results of oral-facial-digital type I?syndrome?in?a?child?were?retrospectively?analyzed,?and? the?related?literature?was?reviewed.?Results? The?girl?was?admitted?to?the?hospital?2?days?after?birth?due?to?weak?suck?and?congenital? cleft?palate.?She?presented?a?distinctive?facial?appearance?such?as?frontal?bossing,?hypertelorism,?epicanthic?folds,?a?micro?chin,? low-set?ears,?cleft?palate,?multi-lobulated?tongue?(two?lobes),?tongue?hamartoma,?thick?alveolar?ridges,?facial?asymmetry?and?toe? deformity.?Genomic?sequencing?and?bioinformatics?analysis?showed?a?heterozygous?mutation,?c.312?+?2T>A?(thymine?>?adenine),? in intron 3 of OFD1 gene on the X chromosome. Conclusion? The?child?was?diagnosed?with?oral-facial-digital?syndrome,?and?the? OFD1?gene?mutation?spectrum?was?expanded.

Diagnosis and treatment of biotinase deficiency with manifestations of wheezing and psychomotor retardation in a case

XIE Lina, MAO Yingying, CHEN Qian, et al

Journal of Clinical Pediatrics. 2020, 38(10):  773.  doi:10.3969/j.issn.1000-3606.2020.10.013

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Objective　To?explore?the?clinical?characteristics,?diagnosis?and?treatment?of?biotinidase?deficiency?(BTDD).? Method? The?clinical?data?of?BTDD?caused?by?biotinidase?gene?mutation?in?a?child?was?analyzed?retrospectively,?and?the? literature?was?reviewed.?Results? A?13-month-old?boy?had?onset?at?8?months?after?birth.?He?presented?with?recurrent?wheezing,? gross?motor?development?regression,?refractory?metabolic?acidosis?combined?with?compensatory?respiratory?alkalosis.?Urine? organic?acid?analysis?showed?that?the?levels?of?lactic?acid,?ketone?bodies,?succinic?acid,?fumaric?acid,?2.3DH2MB,?3meglutarconate,?and?malic?acid?were?increased.?The?activity?of?biotinidase?decreased?significantly.?The?whole-exome?gene?test? revealed?that?the?child?had?a?homozygous?variant?c.1493dupT?in?the?BTD?gene,?which?came?from?both?his?parents?with?normal? phenotype,?and?it?was?a?pathogenic?variant.?He?was?confirmed?with?the?diagnosis?of?BTDD.?The?wheezing?symptoms?in?the?child? were?relieved?within?a?few?hours?after?biotin?supplementation.?Conclusion? Children?with?suspected?BTDD?should?be?tested?by? hematuria?tandem?mass?spectrometry?as?soon?as?possible.?The?tests?for?biotinidase?activity?and?gene?should?be?improved.

Cohen syndrome caused by compound heterozygous variation in VPS13B gene: a case report and literature review

CAO Yuhong, ZHANG Guangyun, CAO Kaifang, et al

Journal of Clinical Pediatrics. 2020, 38(10):  777.  doi:10.3969/j.issn.1000-3606.2020.10.014

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Objective? To?explore?the?clinical?and?genetic?variation?characteristics?of?Cohen?syndrome.?Methods The clinical?data?and?molecular?genetic?test?results?of?Cohen?syndrome?in?a?child?were?retrospectively?analyzed,?and?the?related? literature?was?reviewed.?Results? A?1-year-?and?3-month-old?boy?visited?for?psychomotor?retardation.?He?presented?with?thick? hair,?hypertelorism,?down-slanting?palpebral?fissures,?short?philtrum,?a?short?upper?lip,?hyperlinear?and?single?transverse?palmar? creases,?joint?hypermobility,?hypotonia?and?neutropenia.?Brain?magnetic?resonance?imaging?showed?bilateral?ventricles?enlarged? and?extracerebral?spaces?widened.?Gene?detection?showed?compound?heterozygous?variants?of?c.3863delC?(p.T1288fs)?and? c.5082delT?(p.S1694fs)?in?VPS13B?gene,?which?came?from?parents?with?normal?phenotype.?The?variation?was?predicted?to?be? pathogenic?by?related?software,?and?they?have?not?been?reported.?Conclusions? The?child?was?diagnosed?with?Cohen?syndrome,? and the VPS13B?gene?variant?spectrum?in?Cohen?syndrome?patients?was?expanded.

Height growth retardation in a child with acute myeloid leukemia caused by tyrosine kinase inhibitor: a case report and literature review

ZHENG Fangyuan, ZHANG Leping

Journal of Clinical Pediatrics. 2020, 38(10):  781.  doi:10.3969/j.issn.1000-3606.2020.10.015

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　Objective　To?explore?the?effect?of?tyrosine?kinase?inhibitor?on?height?growth?in?children?with?acute?myeloid? leukemia. Method? The?clinical?data?of?a?child?with?height?growth?retardation?caused?by?tyrosine?kinase?inhibitor?were? retrospectively?analyzed,?and?the?relevant?review?was?reviewed.?Results? The?female?child?had?a?fraternal?twin?sister?with?similar? body?weight?at?birth.?At?the?age?of?19?months,?the?child?was?diagnosed?of?acute?myeloid?leukemia?by?clinical,?blood?routine,?bone? marrow?morphology,?immunology,?molecular， ?and?genetic?genetics.?Genetic?detection?showed?CBFβ-MYH11?fusion?gene?(531.8%)? and?positive?c-kitD419-L42 1delins WN,?and?the?child?received?routine?chemotherapy.?At?that?time,?the?height?of?the?child?and?her? sibling?were?both?at?the?P90?of?the?growth?curve?of?the?same?age?and?sex?in?China.?The?child’s?bone?marrow?was?completely?relieved? after?induction?chemotherapy,?but?the?CBF -MyH11?gene?did?not?turn?negative.?After?the?consolidation?chemotherapy,?the?treatment? with?imatinib?was?added?and?the?gene?turned?negative,?but?the?child?showed?slower?growth?in?height?(from?P90 to P75).?After?the? cessation?of?imatinib,?the?growth?rate?of?height?recovered.?However,?due?to?intermittent?positive?of?CBFβ-MYH11?gene,?imatinib? was?added,?and?the?height?growth?was?reduced.?With?dasatinib?to?replace?imatinib,?the?increase?in?height?was?still?slowed?down.?At?9? years?and?10?months?of?the?follow-up,?the?height?of?the?child?was?134?cm?at?P10~P25,?while?her?sibling?sister?was?146?cm,?still?at?P90. Conclusion? Tyrosine?kinase?inhibitors?can?cause?height?growth?retardation?in?acute?myeloid?leukemia?child.

Glucose-6-phosphate isomerase deficiency caused by GPI gene mutation: a case report and literature review

HUANG Peng, TANG Li, WANG Aiping, et al

Journal of Clinical Pediatrics. 2020, 38(10):  785.  doi:10.3969/j.issn.1000-3606.2020.10.016

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Objective　To explore the clinical characteristics and pathogenic genes of glucose-6-phosphate isomerase (GPI)?deficiency.?Method? The?clinical?data?of?GPI?deficiency?in?a?child?was?retrospectively?analyzed,?and?the?related?literature? was?reviewed.?Results? A?4-year-?and?3-month-old?boy?suffered?from?repeated?anemia?and?jaundice?since?birth,?accompanied? by?hepatosplenomegaly,?knee?joint?pain?and?gross?motor?development?retardation.?No?abnormality?was?found?in?G6PD?enzyme,? pyruvate?kinase,?hemoglobin?electrophoresis,?direct?Coombs?test,?erythrocyte?fragility?and?bone?marrow?cytological?examination.? Knee?joint?MRI?showed?a?small?amount?of?fluid?and?synovitis?in?both?knee?joints.?Whole?exome?sequencing?showed?that?there?was? a?homozygous?missense?mutation,?c.553T>A?(F185I),?in?exon?6?of?the?GPI?gene.?Sanger?sequencing?verified?that?they?were?from? their?parents?and?it?was?a?new?mutation?not?reported?before.?The?mutation?was?pathogenic.?Conclusion? GPI?deficiency?is?a?rare? autosomal?recessive?genetic?disease,?and?early?genetic?testing?can?assist?in?the?diagnosis.

Status and progress of research in biomarkers for the diagnosis of Kawasaki disease

WANG Liang, SI Ping

Journal of Clinical Pediatrics. 2020, 38(10):  789.  doi:10.3969/j.issn.1000-3606.2020.10.017

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Kawasaki?disease?(KD)?is?an?acute?febrile?and?rash?disease?with?systemic?vasculitis?as?the?main?pathological? change.?The?coronary?artery?lesion?(CAL)?is?the?most?serious?complication?of?KD.?KD?has?the?characteristics?of?seasonality,? regionality,?self-limitation?and?high?incidence?in?infants?and?young?children.?Early?administration?of?intravenous?immunoglobulin? (IVIG)?can?prevent?the?occurrence?of?CAL?in?most?children.?However,?some?children?are?still?unresponsive?to?IVIG,?and?the? incidence?of?CAL?is?higher.?Therefore,?early?diagnosis?of?KD?is?of?great?significance?for?reducing?CAL?and?improving?the?life? quality?of?KD?children.?This?paper?reviews?the?current?status?and?progress?of?related?research.

Application and prospect of gene therapy for rare diseases

GUI Yiting, LI Qiang, GUI Yonghao

Journal of Clinical Pediatrics. 2020, 38(10):  794.  doi:10.3969/j.issn.1000-3606.2020.10.018

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The?incidence?of?rare?diseases?is?extremely?low,?but?most?of?them?are?serious?and?tend?to?occur?in?childhood.? Mostly?they?are?caused?by?genetic?mutations.?Due?to?the?small?number?of?patients?and?low?market?demand,?the?research?and? development?cost?of?rare?disease?drugs?is?very?high,?and?only?less?than?1%?of?rare?diseases?have?drugs?available?for?treatment.? With?the?advancement?of?genetic?diagnosis?technology,?gene?therapy?by?virtue?of?its?"one-time?complete?cure"?feature?has? brought?hope?to?patients?with?hereditary?rare?diseases.?This?article?reviews?the?current?status?of?gene?therapy?for?rare?diseases,?and? discusses?the?application?and?development?of?traditional?gene?delivery?technologies?and?gene?editing?technologies?represented?by? CRISPR-Cas9?in?rare?diseases.