Cystinosis: Diagnostic Role of Bone Marrow Examination

Cystinosis: Diagnostic Role of Bone Marrow Examination

The patient was a 1.5-year-old boy who presented with growth failure, inability to walk, polyuria, and polydipsia. On physical examination, he had fair skin and blond hair. He did not have organomegaly. Ophthalmologic examination by an ophthalmologist was normal. Hypophosphatemia, hypovitaminosis D, mild acidosis, glucosuria, proteinuria, and generalized aminoaciduria were found upon laboratory...

The Role of Bone Marrow Aspiration and Bone Marrow Biopsy in Diagnosis of Bone Marrow Metastases

Background: Bone marrow is the site of many malignant disorders and it is one of the common places for solid tumors to metastasize. Examination of the bone marrow aspirate and biopsy is a routine procedure performed for assessment of various conditions such as cytopenias, hematologic neoplasms, nonmalignant disorders and metastatic neoplasms. Methods: The patients were referred to the Hema...

The bone marrow in hereditary cystinosis.

A two-year-old boy was referred to our pediatric clinic for evaluation of chronic renal failure. His height and weight were below the 3rd percentile for age. Physical examination was significant for an afebrile infant with pallor. In the laboratory findings, white blood cell count was 11.8 x109/L, hemoglobin was 8.5 g/dl, mean corpuscular volume (MCV) was 88 fl, and platelet count was 635x109/L...

Examination of Bone Marrow

Bone Complications of Cystinosis.

Cystinosis is recognized as a systemic disease because of mutations in the gene encoding cystinosin, the lysosomal cystine exporter. In the nephropathic form that affects infants and young children, the kidney Fanconi syndrome leads to metabolic acidosis, hypophosphatemia attributable to phosphaturia, and reduced synthesis of the active metabolite of vitamin D, 1,25-dihydroxyvitamin D3, also kn...