Genetic and radiological aspects of pediatric renal cystic disease: A case series.

Renal cystic diseases are common conditions whose etiology can be highly heterogeneous. They require a correct approach for adequate diagnosis and management. We aimed to illustrate part of the spectrum of renal cystic diseases through some clinical cases managed in our service.

Schimke immuno-osseous dysplasia. A case report in Colombia.

Background: Schimke immune-osseous dysplasia (SIOD) is an ultra-rare multisystemic, monogenic, and autosomal recessive inherited disease caused by biallelic mutations in the gene. Approximately 100 cases have been reported worldwide. The disease is characterized by skeletal, renal, and immunological abnormalities.

Kidney function in patients with primary distal renal tubular acidosis.

Background: Recent reports indicate that chronic reduction of glomerular filtration rate (GFR) is common in patients with distal renal tubular acidosis (DRTA). Factors responsible for decreased GFR need clarification.

Methods: We reviewed records of 25 patients with genetically confirmed DRTA included in the RenalTube database.

New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a mutation.

Acute renal failure in children. Multicenter prospective cohort study in medium-complexity intensive care units from the Colombian southeast.

Background: Acute kidney injury is frequent in critically ill children; however, it varies in causality and epidemiology according to the level of patient care complexity. A multicenter prospective cohort study was conducted in four medium-complexity pediatric intensive care units from the Colombian southeast aimed to estimate the clinical prognosis of patients with diagnosis of acute kidney injury.

Methods: We included children >28 days and <18 years of age, who were admitted with diagnosis of acute kidney injury classified by Kidney Disease Improving Global Outcomes (KDIGO), during the period from January to December 2017.

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.

Introduction: X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosphate equilibrium, which is essential for bone formation.

Case Report: A female patient presented with bone deformities of the inferior extremities, prominent joints, and loss of teeth.

Corticosteroids for septic arthritis in children.

Background: Septic arthritis is an acute infection of the joints characterised by erosive disruption of the articular space. It is the most common non-degenerative articular disease in developing countries. The most vulnerable population for septic arthritis includes infants and preschoolers, especially boys.