Aphasia Associated With Acute on Chronic Kidney Failure in an Adolescent.

Acute and chronic kidney disease (CKD) have known neurological associations resulting from uremia, electrolyte disturbances, comorbidities such as hypertension, or other toxin accumulation. Reversible focal neurological deficits are relatively uncommon and poorly understood sequelae of kidney disease. Herein, we describe an unusual case of an adolescent male who developed acute aphasia during his initial presentation for acute kidney injury (AKI) superimposed on progressive CKD stage 5 associated with uremia and multiple electrolyte derangements.

Genetic risk variants for childhood nephrotic syndrome and corticosteroid response.

Introduction: The etiology of most cases of nephrotic syndrome (NS) remains unknown, therefore patients are phenotypically categorized based on response to corticosteroid therapy as steroid sensitive NS (SSNS), or steroid resistant NS (SRNS). Genetic risk factors have been identified for SSNS from unbiased genome-wide association studies (GWAS), however it is unclear if these loci are disease risk loci in other forms of NS such as SRNS. Additionally, it remains unknown if these risk loci are associated with response to therapy.

Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations.

Background: Focal segmental glomerulosclerosis (FSGS) is a major cause of end stage kidney disease, with the collapsing form having the worst prognosis. Study of families with hereditary FSGS has provided insight into disease mechanisms.

Methods: In this report, we describe a sibling pair with mutations and collapsing FSGS (cFSGS).

Atypical recurrent Kawasaki disease with retropharyngeal involvement: A case study and literature review.

Kawasaki disease (KD) is a systemic inflammatory condition primarily affecting young children. We present an adolescent male with two episodes of complete KD between the age of 2 and 14 years. At age 14, he presented with findings suggestive of a retropharyngeal abscess.