RESUMO
A child was diagnosed as congenital hyperinsulinism (CHI) in Henan Province People's Hospital in Oct 2015.Here we report the clinical features and genetic testing result of this CHI child .The clinical manifestation of this child is episodic convulsions .She has long been misdiagnosed as the status epilepticus .During a seizure,the blood tests showed that blood glucose 1.1 mmol/L,insulin 10.47 mU/L and C-P 0.88 μg/L .A heterozygous mutation in ABCC8 gene c .4607 C ＞ T (p .A1536V) was identified in the child but not in her parents .There was no hypoglycemic episode after the dietary intervention .CHI is mainly characterized by hypoglycaemic convulsions and is easily misdiagnosed .Mutations of ABCC8 might be a main cause of CHI .
RESUMO
<p><b>OBJECTIVE</b>To analyze CYP21A2 gene mutation in two families with 21-hydroxylase deficiency (21-OHD) and to explore the correlation between genotype and clinical phenotype.</p><p><b>METHODS</b>Two patients with 21-OHD and their families were investigated. CYP21A2 gene mutation was analyzed by PCR and direct sequencing.</p><p><b>RESULTS</b>The probands from family 1 and 2 have been respectively diagnosed with simple virilizing and non-classical 21-OHD. Both showed increased baseline serum 17hydroxyprogesterone, testosterone and adrenocorticotropic hormone (ACTH), but had no evidence of salt loss. Computer tomography revealed bilateral adrenal hyperplasia in both patients. After 1 year treatment, both had conceived successfully. DNA sequencing revealed that the proband of family 1 had compound heterozygous mutations for IVS2 13 A>G and Ile172Asn. Her father was heterozygous for Ile172Asn, whilst her mother and brother were heterozygous for IVS213A/C>G. In family 2, the proband was heterozygous for Arg341Trp and Gln318X. Her father, sister and nephew were heterozygous for Arg341Trp, whilst her mother was heterozygous for Gln318X. her brother and niece were non-affected. Carriers of single heterozygous mutations in both families had no clinical sign.</p><p><b>CONCLUSION</b>In both families, the disease has been caused by compound heterozygous mutations, for which there has been a good genotype-phenotype agreement. Screening of CYP21A2 gene can facilitate both diagnosis and genetic counseling.</p>
Assuntos
Adulto , Criança , Feminino , Humanos , Masculino , Adulto Jovem , Hiperplasia Suprarrenal Congênita , Sangue , Genética , Hormônio Adrenocorticotrópico , Sangue , Sequência de Bases , Genótipo , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Esteroide 21-Hidroxilase , Genética , Metabolismo , Testosterona , SangueRESUMO
The clinical and genetic data were retrospectively analyzed in a pedigree with pseudohypoparathyroidism type Ⅰ a.Clinically typical Albright hereditary osteodystrophy (AHO),hypocalcemia,hyperphosphatemia,and PTH- and TSH-resistance were manifested in the proband,but not in his brother and parents.The proband's symptom of epilepsy was alleviated by treatment with calcium and vitamin D,which was of no avail in regard to AHO.After GNAS1 genes were sequenced and compared with the GenBank data among the family members,a deletion of c.1107_1108 ( p.Glu370ArgfsX11 ) in exon l3 of GNAS1 gene leading to a frameshift mutation was found in the proband and his mother.It suggested that the GNAS1 gene mutation might be related to the pathogenesis of the disease.
RESUMO
The concentration of serum adiponectin [(2.51±1.42)mg/L] was lower in the group of patients with type 2 diabetes mellitus as compared with that in normal controlgroup [(5.26±0.78)mg/L ,P＜0.01]. The concentration of serum adiponectin was lower in the diabetics with macrovascular complications (MVC) [(1.38±0.77)mg/L] as compared with those without macrovascular complication [(3.66±0.91)mg/L]. The concentration of serum resistin was higher in the diabetic group as compared with that in control group[(7.07±1.11 vs 6.09±0.47)μg/L, P＜0.01]. It was also higher in patients with MVC [(7.96±0.65)μg/L] compared with those without MVC [(6.10±0.43)μgL, P＜0.01].