Factors related to patterns of body mass index in early infancy: 18 month longitudinal study.

BACKGROUND: Children with early adiposity rebound (AR), measured using individual body mass index (BMI) growth curves, have an increased risk of metabolic disease as adults. The children with early AR, however, are not fully characterized. The aim of this study was to investigate the prevalence and characteristics of the infants who develop early AR. METHODS: A total of 1248 full-term children and their mothers participated in the present study. Pre-pregnancy, prenatal, birth, 4 month and 18 month records were collected. Children were classified into two groups: a decrease (D) group, in which the 18 month BMI was lower than the 4 month BMI (n = 1097), in keeping with the standard BMI percentile curve, and an increase (I) group, in which the 18 month BMI was higher than the 4 month BMI (n = 151). RESULTS: Although children in both groups had similar body size at birth, those in the I group had a lower weight at 4 months and higher weight at 18 months than those in the D group (P < 0.001). Fewer mothers in the I group exclusively breast-fed their infants (P = 0.012). These characteristics of infants in the I group suggested a pattern of low fatness level followed by rapid increased fat gain. CONCLUSIONS: Approximately 10% (151/1248) of infants did not follow the standard BMI percentile curves between 4 months and 18 months of age. They were more likely not to be exclusively breast-fed. This finding further stresses the importance of breast-feeding in early infancy.

A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3.

BACKGROUND: Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the causative genes for PHA II. Here, we firstly report on the Japanese child of PHA II caused by a mutation of CUL 3. CASE PRESENTATION: The patient was a 3-year-old Japanese girl having healthy unrelated parents. She was initially observed to have hyperkalemia, hyperchloremia, metabolic acidosis, and hypertension. A close investigation led to the diagnosis of PHA II, upon which abnormal findings of laboratory examinations and hypertension were immediately normalized by administering thiazides. Genetic analysis of WNK1 and WNK4 revealed no mutations. However, analysis of the CUL3 gene of the patient showed abnormal splicing caused by the modification of exon 9. The patient is currently 17 years old and does not exhibit hypertension or any abnormal findings on laboratory examination. CONCLUSIONS: In this patient, CUL3 was found to play a fundamental role in the regulation of blood pressure, potassium levels, and acid-base balance.

Influence of CD36 deficiency on heart disease in children.

BACKGROUND: The physiological role of the CD36 molecule in pediatric heart disease has not been fully investigated. METHODS AND RESULTS: The CD36 antigen in platelets and monocytes was measured by flow cytometry in 189 patients with various heart diseases; 15 (7.9%) had a diagnosis of CD36 deficiency (type I: 2[1 boy, 1 girl], type II: 13 [6 boys, 7 girls]). The prevalence in each heart disease was as follows: group A (congenital heart disease) 7.6% (9/118, type II: 9 [6 boys, 3 girls]); group B (myocardial disease) 20.0% (3/15, I: 1 girl, II: 2[1 boy, 1 girl]), group C (Kawasaki disease) 4.9% (2/41, II: 2 [1 boy, 1 girl]), group D (arrhythmia): 6.7% (1/15, I: 1 boy). Three patients in group B had transient myocardial damage, which was thought to be related to abnormal myocardial long-chain fatty acid metabolism. CONCLUSION: The frequency of CD36 deficiency in childhood heart disease was almost identical to that of healthy individuals. Some patients with CD36 deficiency may be susceptible to myocardial damage in the presence of disadvantageous conditions, such as serious infections or massive steroid therapy.