Search

Background: Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are sporadic. This study aimed to obtain an overview of the etiology and clinical picture of patients with the above condition and report our rare cases. Methods: A combination of retrospective review and case studies was conducted at the Pediatric Endocrine unit of The First Affiliated Hospital Sun Yat Sen University from September 1989 to June 2020. Results: A total of 187 patients with SW were enrolled, of which 90.4% (n = 169) were diagnosed with congenital adrenal hyperplasia (CAH). SW type 21-hydroxylase deficiency accounted for 98.8% (n = 167) of CAH diagnosis, while 1.2% (n = 2) was of lipoid CAH. Non-CAH comprised 9.6% (n = 18) of the total patients whose etiologies included SF-1 gene mutation (n = 1), X-linked adrenal hypoplasia congenita (n = 9), aldosterone synthase deficiency (ASD, n = 4), and pseudo-hypoaldosteronism type 1 (PHA1, n = 1). Etiologies were not identified in three patients. All of patients with ASD and PHA1 exhibited SW syndrome in their early neonatal period. DNA sequencing showed mutations of CYP11B2 for P1-P4 and NR3C2 for P5. P1 and P2 were sibling brothers affected by compound heterozygous mutations of c.1121G > A (p.R374Q) and c.1486delC p.(L496fs); likewise, P4 was identified with compound heterozygous mutations of c.1200 + 1G > A and c.240–1 G > T; meanwhile P3 demonstrated c.1303G > A p.(G435S) homozygous mutation in CYP11B2 gene. Lastly, P5 showed c.1768 C > T p.(R590*) heterozygous mutation in the NR3C2 gene. Conclusion: Etiology of infant with aldosterone defect was mostly congenital. Renal and adrenal imaging are recommended to exclude renal causes. If clinical picture is suggestive, normal plasma Ald in early infancy cannot rule out aldosterone insufficiency. [ABSTRACT FROM AUTHOR]

We are inclined to pay special care and attention to children with large vestibular aqueduct syndrome (LVAS). However, it is not clear whether children with LVAS have more developmental delays than children without LVAS. To compare the developmental performance between pediatric cochlear implantation (CI) candidates with and without LVAS. Medical records of pediatric CI candidates were reviewed. Through propensity score matching analysis, 70 children with LVAS and 70 gender-, age-, and auditory-matched children were recruited as the LVAS and non-LVAS group, respectively. Developmental performances were compared between the two groups. Compared with normal developmental metrics, both LVAS and non-LVAS groups had developmental delay in multiple domains (both p <.001). Although some differences in motor developments between children with LVAS and without LVAS, they demonstrated overall equal developmental levels in both verbal and nonverbal aspects (all p >.05). Age of intervention was the primary risk factor for developmental performance of LVAS children (β < 0, p <.05) with an obvious delay starting at 1 year of age. Pediatric CI candidates with LVAS had both verbal and nonverbal developmental delays. However, they exhibited similar overall developmental performances to those without LVAS. [ABSTRACT FROM AUTHOR]

Developmental evaluation of deaf children before cochlear implantation (CI) has not been given enough attention. This study was designed to evaluate the comprehensive developmental performance of deaf children who are CI candidates. The medical records of pediatric candidates for CI were reviewed. Five hundred children (287 boys; median age: 21.00 months; range: 6–72 months) with a diagnosis of severe-to-profound hearing loss were included. Preoperative developmental evaluation, including gross motor, fine motor, adaptability, language and social skill were retrieved. Comprehensive developmental performances including verbal and nonverbal skill were assessed. Multivariate linear regression analysis was used to analyze the related developmental factors. Compared with normal developmental metrics, deaf children had developmental delay (p <.001), which occurred in not only the verbal but also nonverbal skill (all p <.05). Of the 500 deaf children, 50 (10%) had normal performance; the majority (51.6%) had mild neurological dysfunction. Of all the sub-developments, language developed worst (normal rate: 4.2%) and gross motor developed best (normal rate: 42%). Age of intervention was a risk factor for the developmental level of deaf children (β = −0.340, p <.05). Pediatric candidates for CI had both verbal and nonverbal developmental delay. Age of intervention was a risk factor for the developmental level. Comprehensive developmental evaluation of deaf children before cochlear implantation (CI) should be paid enough attention. Early intervention for improving hearing was of significance. [ABSTRACT FROM AUTHOR]

A Continuing Education Unit (CEU) related to hypercalcemia, hyperuricemia, and kidney dysfunction is presented.

Background: Primary adrenal insufficiency (PAI) in children is a rare condition and potentially lethal. The clinical characteristics are non-specific. It may be manifested as a chronic condition or crisis. The etiologies of PAI in children are different from the adult population. Therefore, diagnostic investigation becomes challenging. Methods: A retrospective study was conducted at The First Affiliated Sun Yat Sen University Pediatric Endocrine unit between September 1989 and July 2016. Results: A total of 434 patients (237 males, 197 females) were identified as having PAI. Congenital adrenal hyperplasia (CAH) was the most frequent etiology (83.4%, n = 362, male:female = 174:188), of which 351 (97.2%) were 21-hydroxylase deficiency (21-OH) CAH. Non-CAH etiology accounted for 11.3% (n = 49, male:female = 47:2), of which 46 (93.9%) were of non-autoimmune. The etiologies of the 49 cases were adrenoleukodystrophy (ALD; n = 22), X-linked adrenal hypoplasia congenital (X-AHC; n = 20), autoimmune polyglandular syndrome (APS; n = 3), triple A syndrome (n = 2), steroidogenic factor 1 (SF-1) gene mutation (n = 1) and adrenalectomy (n = 1). The etiology was not identified for 23 patients (5.3%, male:female =16:7). Clinical symptoms were in accordance with the incidence of genital ambiguity (42.6%), digestive symptoms (vomiting and diarrhea) (35.5%), failure to thrive (26.5%), gonadal-associated symptom (premature puberty, sexual infantilism and amenorrhea) (21.2%), hyperpigmentation (9.7%), adrenal crisis (AC; 4.1%), neurological symptoms (3.2%), fatigue (2.5%) and prolonged jaundice (2.1%). Through physical examination, 58.5% were found to have hyperpigmentation. Conclusions: This study spanned 29 years at our institution. The etiology of PAI in children was mostly of congenital forms, which exhibits a wide spectrum of clinical characteristics. For etiological diagnosis, chromosomal karyotyping is recommended for female phenotype patients. [ABSTRACT FROM AUTHOR]

A Continuing Education Unit (CEU) related to hypercalcemia, hyperuricemia, and kidney dysfunction is presented.

Background: Urinary interleukin-18 and cystatin-C are suggested to be biomarkers for predicting acute kidney injury (AKI). The aims of this study are to examine whether the urinary concentrations of interleukin-18 and cystatin-C vary with gestational age and other factors in non-AKI control neonates, and to determine whether urinary interleukin-18 and cystatin-C can predict AKI development in non-septic critically ill neonates, independently of potential confounders. Methods: We enrolled 62 non-septic critically ill neonates. Urine was collected every 48-72 h during the first 10 days of life. Results: Urinary concentration of cystatin-C, but not interleukin-18, decreased with increasing gestational age and body weight, but not with increasing postnatal age in non-AKI control neonates. Both urinary interleukin-18 and cystatin-C were associated with AKI, even after controlling for gestational and postnatal age, birth weight, gender, Apgar score and the score for neonatal acute physiology in non-septic critically ill neonates. Urinary interleukin-18 and cystatin-C had odds ratios of 2.27 and 2.07, and achieved the area under-the-receiver-operating-characteristic curve of 0.72 and 0.92, respectively, for predicting AKI. Conclusions: The urinary concentration of cystatin-C, but not interleukin-18, may decrease with increasing renal maturity. Both urinary interleukin-18 and cystatin-C are independently predictive of AKI in non-septic critically ill neonates. [ABSTRACT FROM AUTHOR]

Background: Abnormalities of the complement system in Henoch-Schönlein purpura (HSP) have been reported, but how this abnormality in the complement system impacts on the prognosis of HSP remains unknown. Methods: We retrospectively studied patients hospitalized for HSP in the Children's Hospital Affiliated to Soochow University between October 2010 and May 2011. Patients with HSP and hypocomplementemia were the cases, and those without hypocomplementemia were the HSP controls. Another group of children ( n = 50) with upper respiratory tract infections, but without HSP acted as negative controls. Results: A total number of 338 HSP patients were included in this study ( n = 53 cases, n = 285 controls). In the cases, C3 and C4 levels decreased in 29 patients, C3 was low in 6, and C4 in 18. Complement levels returned to normal within 3 months in all HSP patients except one. Case group patients had higher levels of serum IgG and arthralgia, as well as positive titers of antistreptolysin-O. Rates of abdominal pain, gastrointestinal bleeding, Henoch-Schönlein purpura nephritis (HSPN), and serum IgA and IgM levels were similar in the two HSP groups. Conclusion: Hypocomplementemia associated with HSP is a transient phenomenon. The incidence of significant sequelae such as HSPN between patients with and without hypocomplementemia does not differ. [ABSTRACT FROM AUTHOR]

Background: Dental caries is still considered a major public health concern for human beings, especially minority groups and those living in disadvantaged communities. The Lisu is a minority group in China of more than 702,000 people located primarily in Yunnan Province. The present study was aimed at studying the status of dental caries status, as well as its risk factors, among Lisu children aged 5 years in Yunnan Province, China. Methods: A multistage cluster sampling method was employed for participants' recruitment. Two calibrated dentists carried out the clinical examination with dental mirrors and CPI probes under an LED headlight. The dental caries experience was assessed by the dmft index. Oral hygiene status was evaluated using the visible plaque index (VPI). Information on the child's socio-demographic characteristics and oral health-related practices were collected using a parental questionnaire. A zero-inflated negative binomial regression (ZINB) was employed to analyse the associations between the dental caries status and the children's social-demographic status and their oral health–related behaviours. Results: In all, 470 Lisu children aged 5 were invited, and 404 were examined. Their mean dmft (±SD) and caries prevalence were 5.6 ± 4.8 and 80%, respectively. Their mean VPI scores were 58% ± 21%. Lisu children who brushed their teeth at least once daily had higher dmft scores, and children from high-income families were more likely to have dental caries. Conclusion: The prevalence of dental caries among Lisu children aged 5 years in Yunnan, China was high, and their caries status was severe, with a majority of carious teeth untreated. The dental caries experience of Lisu children aged 5 was related to their brushing frequency and families' economic backgrounds. [ABSTRACT FROM AUTHOR]