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Objective:To analyze clinical characteristics and genetic characteristics of children with ATP sensitive potassium passage (K ATP-HI). Methods:Forty-five children with genetically confirmed K ATP-HI and their families admitted to Beijing Children′s Hospital of Capital Medical University between February 2002 and December 2018 were selected as the study subjects. A detailed retrospective analysis of the patient's clinical characteristics, diagnosis and treatment process, disease-causing gene carrying status and later follow-up data was performed. ABCC8/KCNJ11 gene was sequenced by second-generation sequencing technology. Results:Among 45 children with K ATP-HI, 34 cases (75.6%) were neonatal onset, the first symptoms of 21 cases (46.7%) were convulsions. 39 cases had been treated with diazoxide, including 12 cases (30.8%) with good efficacy, 16 cases (41%) with poor efficacy and 11 cases with uncertain efficacy. Octreotide was further applied in 18 patients with uncertain or ineffective efficacy after diazoxide treatment, and 13 cases (72.2%) were effective, 3 cases were ineffective, and 2 cases were uncertain. 10 CHI patients who were ineffective to drug treatment or had clearly focal lesions confirmed by 18F-dopa positron emission by computed tomography ( 18F-DOPA PET) scans had undergone surgical treatment, 8 of which underwent partial pancreatectomy and blood glucose returned to normal after the operation; the other 2 cases underwent subtotal pancreatectomy and both had secondary diabetes after operation. Among 45 children with K ATP-HI, 1 case carried both ABCC8 and KCNJ11 mutations, 10 cases carried ABCC8 compound heterozygous mutations, and the remaining 34 cases carried ABCC8/KCNJ11 single genetic mutation. Among them, 21 cases had paternal inheritance, and 3 cases had maternal inheritance, 6 cases were identified with de novo mutations. Conclusions:Diazoxide treatment was ineffective for most K ATP-HI children, but octreotide had a higher effective rate. Partial pancreatectomy for focal type patients had a higher cure rate, and there was a risk of secondary diabetes after subproximal pancreatectomy, so it was very important to clarify the histological type of children before surgery. ABCC8 gene mutations and KCNJ11 gene mutations were the main pathogenic genes of K ATP-HI. Among patients carrying mutations in single ABCC8 or KCNJ11 gene mutation, K ATP-HI inherited by paternity were the majority. Some K ATP-HI children can relieve the hypoglycemia symptoms by themselves.
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A male patient aged 1 year and 8 months with type 2 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL2) was reported. The clinical characteristics included short stature, flat middle face, hypotonia, limb joint relaxation, hyperextension of metacarpophalangeal articulation, etc. In addition, the patient had a history of congenital laryngeal stridor. Thus, SEMDJL2 was determined according to the above symptoms and medical history. Sanger sequencing showed that the child carried a c.443C>T missense mutation in the KIF22 gene, which resulted in an amino acid variation namely p.Pro148Leu. This phenotype was preliminarily determined as a pathogenic mutation. Therefore, it is suggested that next-generation sequencing genetic testing could be helpful for genetic diagnosis in children with congenital laryngeal stridor, systemic joint relaxation, and excessive joint extension.
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Objective:To study the clinical and genetic characteristics of Gitelman syndrome in children.Methods:Four children diagnosed with Gitelman syndrome in the Baoding Children′s Hospital from January 2017 to October 2018 were enrolled, and their clinical data and pathogenic gene carrying status were analyzed.Results:There were 2 males and 2 females in the enrolled patients.Two children complained of short stature and 2 children were diagnosed as hypokalemia by accident.All the 4 children showed constipation, short stature, repeated hypokalemia, hyponatremia, hypochloremia, normal urinary calcium/creatinine ratio, elevated renin and angiotensin Ⅱ levels in supine position, and normal aldosterone.Three children had hypomagnesemia and 1 child had a normal blood magnesium level.All of the 4 children had a compound heterozygous mutation of SLC12A3 gene.The mutations of c. 1670-7G>A and c. 1698C>A were not reported in the literature. Conclusions:Constipation and short stature are common clinical manifestations of Gitelman syndrome in children.Typical cases show hypokalemia, hypomagnesemia, hyponatremia and hypochloremia, etc.The blood magnesium level can be normal in few children.Most children with Gitelman syndrome carry SLC12A3 compound heterozygous mutations.
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Objective To study the significance of level changes of serum hydrogen sulfide(H2 S) and interleukin-6(IL-6)in children with hand,foot and mouth disease(HFMD).Methods Nity-two cases with HFMD were enrolled and divided into severe HFMD group(48 cases)and common HFMD group(44 cases).Forty-six healthy children were enrolled as healthy control group.The serum H2 S and IL-6 were detected.Results Acute phase:compared to the healthy control group[H2 S(55.76 ±7.80)μmol /L,IL-6 (61.31 ±13.43)ng /L],the level of serum H2 S significantly reduced and the level of IL-6 significantly increased in severe HFMD group[H2 S(21.72 ±7.52)μmol /L;IL-6(131.33 ±17.82)ng /L]and common HFMD group[H2 S(31.86 ±8.41 )μmol /L;IL-6(95.48 ±15.07)ng /L](P ﹤0.01 ),and there was signifi-cantly difference between the severe HFMD group and common HFMD group(P ﹤0.01 ).Recovery phase:compared to the healthy control group,the serum H2 S level[(34.54 ±13.21 )μmol /L]was lower and IL-6 [(92.73 ±15.25)ng /L]was higher in severe HFMD group(P ﹤0.01 ).The serum H2 S level was negatively correlated with IL-6 in severe HFMD group and common HFMD group(r =-0.31 ,P ﹤0.01 ;r =-0.45, P ﹤0.01 ).Conclusion The serum H2 S and IL-6 participate in the pathological process of HFMD,and the level change can be used as one of indicators of early diagnosis.
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ObjectiveTo analyze the potential risk factors for relapse and development of epilepsy in patients with benign in-fantile convulsions associated with mild gastroenteritis (BICE).MethodsA total of 264 cases of BICE were recruited. Accord-ing to the frequency of convulsions, the patients were divided into single group (n=134, convulsion once), and multiple group (n=130, convulsions≥2 times). According to convulsion duration, the patients were divided into short-term group (n=186, con-vulsions duration <5 minutes) , and long-term group (n=78, convulsion duration≥5 minutes). The clinical data obtained during hospitalization and follow-up were analyzed.ResultsIn multiple group, 9.23% were relapsed and 6.15% developed epilepsy. In single group, 2.99% were relapsed and 0.75% developed epilepsy. There were signiifcantly different in the rate of relapses and development of epilepsy between two groups (P<0.05). In the long-term group, 12.82% were relapsed and 8.97% developed epi-lepsy. In the short-term group, 3.23% were relapsed and 1.08% developed epilepsy. There were signiifcantly different in the rate of relapses and development of epilepsy between the two groups (P<0.05).ConclusionsThere are the risks of relapse and development of epilepsy in BICE patients. Convulsions≥ 2 times and≥5 minutes may be the risk factors of relapse and devel-opment of epilepsy.