Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

Background: In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain unknown.

Methods: We clinically and genetically characterized members of a five-generation black family with isolated autosomal dominant Fanconi's syndrome.

Childhood scleromyositis with a negative PM/Scl antibody.

Overlap syndromes, such as scleromyositis, antisynthetase syndrome and mixed connective tissue disease, consist of a blend of clinical features involved in two separate autoimmune disorders. Scleromyositis, the most common overlap syndrome, is usually observed in adults, and has rarely been documented in childhood. Here, the case of a 10-year-old African American female with scleromyositis is reported.

Changing epidemiology of acute post-streptococcal glomerulonephritis in Northeast Florida: a comparative study.

The objective of this study was to review the epidemiological patterns of acute post-streptococcal glomerulonephritis (APSGN) in a pediatric population. We compared incidence, pathogenesis, clinical presentation and outcomes in two APSGN pediatric patient cohorts in northeastern Florida. Retrospective medical records were reviewed of children who were admitted to our institution with a diagnosis of APSGN.

Nephrotoxicity in a child with perinatal HIV on tenofovir, didanosine and lopinavir/ritonavir.

Tenofovir-related tubule damage characterized by Fanconi syndrome, renal insufficiency and nephrogenic diabetes insipidus has been reported in the adult HIV-infected population. To our knowledge there has been no reported case of such complications in the pediatric population. We report the case of a 12-year-old perinatally HIV-infected African-American girl who developed nephrogenic diabetes insipidus, renal insufficiency and Fanconi-like syndrome while taking tenofovir (Viread) in combination with lopinavir-ritonavir (Kaletra) and didanosine (Videx).

Hypertension and the vanishing kidney.

The diagnostic role of retrograde pyelography in children with secondary hypertension has never been discussed in the literature. We report a child with severe hypertension, who apparently has a normal renin level and a solitary kidney by renal sonography and renal scan. Retrograde pyelography was able to identify the scarred renal mass.

Minimal change nephrotic syndrome with Guillain-Barré syndrome.

A 17-year-old white male with a diagnosis of Guillain-Barré syndrome (GBS) developed severe proteinuria and edema 5 days later. Renal biopsy confirmed minimal change nephrotic syndrome (MCNS). To our knowledge this is the first report of such an association between ex novo MCNS and GBS in a pediatric patient.