ABSTRACT
BACKGROUND: Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder, mostly and often firstly affecting the kidneys, together with impaired disharmonious growth and rickets, eventually resulting in progressive chronic kidney disease (CKD). With the introduction of cysteamine therapy, most pediatric patients reach adulthood with no need for kidney replacement therapy. Still, detailed changes in INC patients' clinical and morphological presentation over the past decades have not yet been thoroughly investigated. METHODS: Two groups with a respective total of 64 children with INC and 302 children with CKD, both treated conservatively and aged 2 to 18 years, were prospectively observed in the time span from 1998 to 2022 with 1186 combined annual clinical and morphological examinations clustered into two measurement periods (1998 to 2015 and ≥ 2016). RESULTS: In INC patients, thoracic proportion indices remained markedly increased, whereas body fat stores remained decreased over the past 25 years (+ 1 vs. below ± 0 z-score, respectively). Their CKD peers presented with overall improved growth, general harmonization of body proportions, and improved body fat stores, while INC patients only presented with an isolated significant increase in leg length over time (∆0.36 z-score). eGFR adjusted for age did not significantly change over the past 25 years in both groups. Alkaline phosphatase (ALP) showed a significant decrease in CKD patients over time, while remaining above normal levels in INC patients. CONCLUSIONS: Disproportionate thoracic shape and impaired body fat stores remain the most characteristic morphological traits in INC patients over the past 25 years, while causal mechanisms remain unclear.
ABSTRACT
Despite the relevant findings on non-average information processing rate (IPR) indicators-intelligence relation, and on age-related changes of some of these indicators during aging, the research on sex-specific age-related changes of these indicators during childhood and adolescence are lacking. In a transversal study, 1197 school children (598 girls) aged 8-18 have been individually measured on 5 IPR indicators--two averages (mean_t, median_t) and three non-averages (min_t, max_t, sd_t). The results corroborated the expected non-linear changes of average IPR indicators in the observed developmental period, whereby the sex difference in related developmental patterns was detected: marked age-related decrement in girls ceased at the age of 12, and in boys around the age of 13-14, after which progress in both sexes gradually ceased by the age of 18 and was less pronounced in girls. Generally similar non-linear age-related decrements of non-average indicators were registered, but they showed mutual intensity differences at specific ages and sex difference in developmental patterns was detected, analogously to average indicators. Systematic sex differences in the whole observed period were obtained only in two non-average indicators: girls showed minor sd_t and boys showed minor min_t. In specific age groups, a number of sex differences were obtained that are explainable by two possible mechanisms: earlier maturation in girls and sex bias of the IPR task content. The justifiability of separate, average and non-average, IPR indicators application was corroborated by their distribution form differences, by mutual, predominantly low and medium correlations, by the different intensity of their developmental changes and by their different ability to detect sex differences. For all registered phenomena, the theoretical and/or empirical explanations were offered from the domain of sex specific intellectual, motor and neural development, and it has been shown that non-average IPR indicators do register age and sex differences, which average indicators do not manage to register.