Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology.</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families.</p><p><b>RESULTS</b>Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c.931dupC, which caused early termination of translation and produced the truncated protein p.Gln311Profs*13; the other patient had a splice site mutation, IVS14+1G>A, which caused the skipping of exon 15 and produced an incomplete amino acid chain. Their parents had normal gene phenotypes.</p><p><b>CONCLUSIONS</b>c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.</p>

Dehydroepiandrosterone sulfate and insulin of prepubertal girls born small for gestational age / 中华儿科杂志

<p><b>OBJECTIVES</b>To investigate whether the association between low birth weight and increased risk of developing premature adrenarche, adrenal hyperandrogenism, hyperinsulinism and insulin resistance is apparent in prepubertal girls born small for gestational age (SGA) and analyze when adrenarche occurs in SGA infants and normal birth weight girls.</p><p><b>METHODS</b>The study was performed in 39 prepubertal SGA girls with a mean age of 7.4 +/- 1.7 years and 42 prepubertal appropriate for gestational age (AGA) girls with a mean age of 7.4 +/- 1.7 years served as controls. All children were born at term and were prepubertal. Detailed physical examination was performed for all the children after 12 h of overnight fasting. Blood samples were taken for the measurement of fasting glucose (FPG), insulin (FIns), dehydroepiandrosterone sulfate (DHEAS), cortisol and estradiol concentrations. Insulin sensitivity was assessed by insulin sensitivity index [IAI = log(e) (FPG x FIns)].</p><p><b>RESULT</b>There was no premature adrenarche in SGA and AGA groups. Birth weight was significantly lower in SGA group (P < 0.001). Gestational age was similar in both groups. At the time of the study, the ages, body mass index (BMI), fasting glucose, cortisol and estradiol did not significantly differ between the two groups. But body height and weight were significantly lower in the SGA group (P < 0.05 for both). The fasting plasma insulin in the SGA group was higher than that in AGA group (common logarithmic transformation: 1.076 +/- 0.041 vs. 1.050 +/- 0.051, P < 0.05). The insulin sensitivity index was not significantly different between the two groups (-4.0165 +/- 0.1761 vs. -3.9768 +/- 0.2314). The serum DHEAS was significantly higher in SGA children than in AGA children (common logarithmic transformation: 2.637 +/- 0.271 vs. 2.514 +/- 0.250, P < 0.05). From about age 7 the concentration of DHEAS had a gradual rise in AGA children. The time of DHEAS rise tended to be earlier in SGA children compared with AGA children.</p><p><b>CONCLUSIONS</b>Adrenarche commences at approximately 7 years of age in AGA girls. The time of adrenarche tended to be earlier in SGA girls compared with AGA girls. There were adrenal hyperandrogenism and hyperinsulinism in prepubertal girls born small for gestational age. But there was no insulin resistance as assessed by insulin sensitivity index.</p>

Clinical Analysis of 90 Children with Type 1 Diabetes Mellitus / 实用儿科临床杂志

Objective To analyze the incidence, clinical feature and late complications, and treatment for diabetes ketoacidosis (DKA) in children with type 1 diabetes mellitus.Methods Ninty children with type 1 diabetes mellitus within 10 years were retrospectively reviewed.The onset situation,clinical feature and long-term complication,and treatment of DKA were analized.Results High morbidity was found in 10 to 16 years old children.DKA was often caused by infection; late complications of diabetes mellitus was resulted from interrupted injection of insulin.Conclusions Emergency treatment for DKA may involve the injection of small dose insulin,correction of the disorder of water and electrolysis and regulation of acid-base.The education of patients and parents about diabetes mellitus and long-term injection of insulin are of importance in preventing the complications.