[Characterization of a cohort of pediatric patients with Congenital Adrenal Hyperplasia]. / Caracterización de una cohorte de pacientes pediátricos con Hiperplasia Suprarrenal Congénita.

Congenital adrenal hyperplasia (CAH) is the most common adrenal disorder in childhood. Objecti ve: To describe the clinical and laboratory characteristics of pediatric patients with CAH and perform an exploratory analysis comparing some clinical and laboratory variables according to the types of CAH. PATIENTS AND METHOD: Observational descriptive longitudinal study. Medical records from the pediatric endocrinology outpatients from four institutions in Medellín, Colombia were reviewed. Sociodemographic, clinical (type of CAH, salt-wasting crisis, associated endocrinopathies), labora tory (17-hydroxyprogesterone, testosterone, dehydroepiandrosterone sulfate, androstenedione, cor tisol, and adrenocorticotropic hormone) variables were analyzed. A descriptive statistical analysis was carried out. RESULTS: 132 patients (65% female) were included. The median age at diagnosis was 2 months, 44.7% neonatal diagnosis. Seventy-nine children with classical salt-wasting CAH, 31 with simple virilizing, and 22 with non-classical form were documented. Median 17-OHP at diagnosis was 4820 ng/dl. Sexual differentiation disorder was presented in 47% of patients and 48% presented with adrenal crisis (AC) at diagnosis; the median age of the first AC was 15 days. Ninety-three patients required fludrocortisone and 32 patients presented AC after diagnosis and treatment. Median height/ age (last appointment): -0.49 SD, difference between bone and chronological age: 26 months. More than 60% of patients had elevated androstenedione and/or testosterone at the last appointment. CONCLUSIONS: Sociodemographic and clinical characteristics are similar to those reported in the literature. In 48% of patients, AC was the initial manifestation, making neonatal screening important, as it would allow an early diagnosis. We found virilization in 71% of women in our study. A CAH should be suspected in a newborn with different genitalia.

Associated characteristics and impact on survival of post renal-transplantation lymphoproliferative disease: case-control study from a regional registry.

BACKGROUND: Lymphoproliferative disease (LPD) after renal transplantation (RT) is an unusual complication but one that impacts greatly on survival. We examined possible predisposing factors and their effect on survival using data from the Andalusian Transplant Co-ordination Information System (SICATA) regional computerized database of patients on renal replacement therapy due to chronic kidney disease (CKD). METHODS: The study population comprised all RT undertaken at adult centers in Andalusia from January 1, 1990 to December 31, 2009 (N = 5577). We retrospectively analyzed cases at December 31, 2011 (N = 60). A control group comprised the 2 closest RT in time done at the same center and with equal or greater graft survival at the time of diagnosis of LPD in the associated case (N = 120). The basic variables were obtained from the general register (1990-2009) and widened from the specific register (2000-2009). Case-control comparison of survival was done with Kaplan-Meier from diagnosis to death or organ loss censored for death. Cox univariate and multivariate (LPD plus available covariables of demonstrated effect) analyses were done. RESULTS: We found no significant differences between cases and controls regarding the characteristics of the recipient or of the donor/organ, initial immunosuppression by intention to treat, or post-RT course. The impact on recipient survival 5 years after diagnosis was as follows: LPD, 35%; controls, 90% (P < .000). Cox univariate analysis showed the relative risk (RR) of death for LPD was 11.36 (95% confidence interval [CI], 6.2-20.9; P < .000) and the multivariate analysis showed relative risk (RR) = 13.87 (7.45-25.3; P < .000). The impact on death-censored graft survival 5 years after diagnosis was as follows: LPD, 65%; controls, 87% (P = .007). Cox univariate analysis was as follows: RR of failure for LPD, 2.70 (95% CI, 1.3-5.7; P = .009). CONCLUSIONS: We found no significant differences between LPD cases and contemporary controls regarding the basic characteristics of the recipient, donor/organ, initial immunosuppression, or initial graft evolution. There was an enormous impact on both patient and graft survival.