Age Of First Visit Research Articles

Clinical and genetic study of twelve Chinese patients with Alexander disease

To delineate the phenotype and genotype characteristics in 12 Chinese children with Alexander disease (AD), which is helpful for the molecular diagnosis and genetic counseling in China. Clinical diagnosis of AD was based on MRI criteria proposed by van der Knaarp in 2001. Included AD patients were followed up for 0.50 - 3.67 years. Mutations in GFAP were detected by DNA sequencing. The 12 cases of AD were clinically diagnosed. Age of first visit was 4.87 years (0.75 - 12.00 years), with 3 types of chief complaints: developmental delay in 3, recurrent seizures in 7, unable to walk after falling in 2. Average head circumference was 52.34 cm (44 - 58 cm), which larger than age-matched average by 6.45% (1.80% - 13.95%). On the first visit, scaling according to Gross motor functional classification system (GMFCS) was performed, with GMFCSI in 8, II in 3, V in 1. Mild to severe cognitive dysfunction were found in 8, and seizures in 11 cases. The 12 patients were followed up for 0.50 - 3.67 years, their motor and cognitive function remained stable. Episodic aggravations provoked by fever or falling were observed in 5 cases (41.67%). Heterozygous missense mutations of GFAP were detected in 12 patients. All mutations were de novo; 3 out of 10 mutations identified were novel. R79 and R239 were hot mutations, which was consistent with previous reports. Mutations were located in exon 1 in 8 cases. The phenotype in these patients is characterized by slower progression compared with reports from other population and high incidence of seizures. And episodic aggravations provoked by fever or falling were more common. The genotype characteristics are consistent with previous reports. The results of this research expanded the number of patients with Alexander disease found to have GFAP coding mutations in China.

Multicystic dysplastic kidney. In defense of a conservative experience

Multicystic dysplastic kidney (MDK) is one of the most common congenital anomalies of the urinary tract and the main cystic renal disease in children. Our institution follow-up protocol of MDK uses, as has been performed more widely in the last two decades, a conservative attitude. To characterize MDK cases followed in our Outpatient Clinic of Pediatric Nephrology, evaluate their progress and reflect on the protocol adopted. 36 MDK patients observed between January 1995 and December 2009 were included in this retrospective study and followed-up. In 35 children the diagnosis was the result of prenatal ultrasound. All children underwent a systematic protocol, including conservative treatment (no surgery) and periodic clinical, laboratory and ultrasound evaluation. All children underwent a MAG3 renogram or a 99mTc-DMSA renal scintigraphy and a voiding cystourethrography, only repeated in cases of vesicoureteral reflux (VUR). Eighteen children (50%) are male. The median age of first visit was four weeks. The median of follow-up was 65 months. The MDK was in the left kidney in 20 children (56%). The median age of onset was 10 and six weeks Contralateral nephro-urologic pathology was identified in 10 cases (28%): seven children with VUR (grade ≥ IV in three), two with ureteropelvic junction obstruction (UPJO) and one with mild pelvic dilatation. There was involution of dysplastic kidney in 27 cases (75%), partial in 24 and total in three. The involution rate was higher in the first 36 months. There was a progressive compensatory hypertrophy of the contralateral kidney, with the highest rate in the first two years of life. There was resolution of VUR in five of the seven units reflux (three spontaneous and two after ureteral reimplantation). The two children with UPJO underwent surgery. There was no malignant degeneration and there was not carry out any nephrectomy of dysplastic kidney. Urinary infection occurred in nine children (25%), three of which have VUR and two with UPJO. There were no cases of hypertension or decreased glomerular filtration rate. The results of this study are generally consistent with other casuistics and confirm the fairness of a conservative attitude in the approach of children with MDK. This clinical approach is safe, with a minimum incidence of complications, with tendency to involution of dysplasic kidney being the rule.

Growth Characteristics of Infantile Hemangiomas: Implications for Management

Infantile hemangiomas often are inapparent at birth and have a period of rapid growth during early infancy followed by gradual involution. More precise information on growth could help predict short-term outcomes and make decisions about when referral or intervention, if needed, should be initiated. The objective of this study was to describe growth characteristics of infantile hemangioma and compare growth with infantile hemangioma referral patterns. A prospective cohort study involving 7 tertiary care pediatric dermatology practices was conducted. Growth data were available for a subset of 526 infantile hemangiomas in 433 patients from a cohort study of 1096 children. Inclusion criteria were age younger than 18 months at time of enrollment and presence of at least 1 infantile hemangioma. Growth stage and rate were compared with clinical characteristics and timing of referrals. Eighty percent of hemangioma size was reached during the early proliferative stage at a mean age of 3 months. Differences in growth between hemangioma subtypes included that deep hemangiomas tend to grow later and longer than superficial hemangiomas and that segmental hemangiomas tended to exhibit more continued growth after 3 months of age. The mean age of first visit was 5 months. Factors that predicted need for follow-up included ongoing proliferation, larger size, deep component, and segmental and indeterminate morphologic subtypes. Most infantile hemangioma growth occurs before 5 months, yet 5 months was also the mean age at first visit to a specialist. Recognition of growth characteristics and factors that predict the need for follow-up could help aid in clinical decision-making. The first few weeks to months of life are a critical time in hemangioma growth. Infants with hemangiomas need close observation during this period, and those who need specialty care should be referred and seen as early as possible within this critical growth period.