Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up.

Background: Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure.

Case Report: We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent multiple surgery, including two renal transplants, developed transplant renal artery stenosis that was managed medically, and progressive heart failure at the age of 33 years.

Serum beta2-microglobulin and immunoglobulin levels in young hemodialysis patients.

Amyloidosis is a complication of long-term hemodialysis treatment. The major histological feature of hemodialysis-associated amyloidosis (HAA) is the deposition of amyloid fibrils in the affected lesions, due, in part, to elevated serum beta2-microglobulin (beta2M) levels. In vitro studies reveal that serum immunoglobulin light and heavy chains co-deposit with beta2M in tissues affected by HAA.

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.

There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis.

Acquired renal cystic disease in children and young adults on maintenance dialysis.

Acquired renal cystic disease (ARCD) is a well-known complication of end-stage renal disease (ESRD). We studied 24 patients, aged 8-27 years (mean 19.8 +/- 5.

Growth in children with moderate renal insufficiency: measurement, evaluation, and treatment.

Essential in the treatment of children with chronic renal insufficiency (CRI) is the elimination of growth deficits. With the prospect of recombinant human growth hormone (rhGH) and other adjunct treatment, the appropriate measurement and assessment of growth retardation and growth recovery will document continued progress toward eliminating this disabling condition. Phases and determinants of growth at different ages are best described by growth velocity patterns.