Title : Elucidating the role of aberrant macrophage activation in nephropathic cystinosis
نویسنده
چکیده
OVERVIEW Overall, the project produced some insightful and intriguing results. The project was designed to further delineate the Ctns-/macrophage phenotype both in vitro (Aim 1) and confirming these phenotypic findings in vivo in the context of chronic kidney injury (Aim 2). The project progressed as expected for Aim 1 but we were confounded by the results from Aim 2. As discussed below, we found that despite in vitro studies of a hyperphagocytic, hyperinvasive macrophage phenotype that there was less fibrosis in Ctns ko chimeric mice during chronic kidney injury. We are still investigating the mechanism behind this discrepancy but hypothesize that it is due to an impaired ability to respond appropriately to chemotaxis during kidney injury. Studies are ongoing to investigate this hypothesis.
منابع مشابه
Title of Project: Early Intervention Trial for Visual Processing Deficit in Cystinosis
Background: In earlier studies, we found that children and adults with nephropathic cystinosis often have significant difficulty with visual spatial skills, and that this in turn can lead to academic difficulties, particularly with math. Earlier studies by Bernhard and Major (2005) and Temple et al. (2003) had demonstrated that a computerized program of gradually increasing difficulty could hel...
متن کاملInhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis.
Nephropathic cystinosis, characterized by accumulation of cystine in the lysosomes, is caused by mutations in CTNS. The molecular and cellular mechanisms underlying proximal tubular dysfunction and progressive renal failure in nephropathic cystinosis are largely unclear, and increasing evidence supports the notion that cystine accumulation alone is not responsible for the end organ injury in cy...
متن کاملPhotic sneeze reflex in nephropathic cystinosis.
Photic induced sneeze is a reflex that occurs in certain individuals after exposure to bright light. Cystinosis is an autosomal recessive inborn error of metabolism in which nonprotein cystine accumulates within lysosomes. The pathognomonic ocular manifestation of cystinosis is corneal crystal deposition. We observed photic induced sneezes during ophthalmoscopic examination in five of 19 patien...
متن کاملClearance of corneal crystals in nephropathic cystinosis by topical cysteamine 0.5%.
A 2-year-old girl with nephropathic cystinosis was successfully treated with topical cysteamine 0.5% to one eye. Clearance of crystals from the treated cornea was virtually complete after three months. The possibilities and limitations of this form of treatment are discussed.
متن کاملDiagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam
We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.
متن کامل