The genetic mutation in this patient may have caused a better course of the disease.
📌 3 Key Takeaways
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Objective & Hypothesis:The TNF-like weak inducer of apoptosis (TWEAK) gene was first discovered in 1997 and its receptor Fn14 in 2001.
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Key Findings & Data:While basal TWEAK and Fn14 concentrations were foundto be low in the kidney under normal conditions, TWEAK levels and tissue receptor expression were found to be increasedin the presence of an acute injury.We report here the first case with persistent microscopic hematuria since infancy withTWEAK gene mutation, who was diagnosed with IgA Nephropathy/Henoch-Schönlein Purpura Nephritis at the age of18 during a kidney biopsy.
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Conclusion & Impact:The genetic mutation in this patient may have caused a better course of the disease.
🔬Design:Research Article
📍Scope:2001 Verileri
⚙️Variables:Domain Parameters
Özet
The TNF-like weak inducer of apoptosis (TWEAK) gene was first discovered in 1997 and its receptor Fn14 in 2001. TWEAK canbe protective or damaging, depending on the status of the tissue. While basal TWEAK and Fn14 concentrations were foundto be low in the kidney under normal conditions, TWEAK levels and tissue receptor expression were found to be increasedin the presence of an acute injury.We report here the first case with persistent microscopic hematuria since infancy withTWEAK gene mutation, who was diagnosed with IgA Nephropathy/Henoch-Schönlein Purpura Nephritis at the age of18 during a kidney biopsy. The genetic mutation in this patient may have caused a better course of the disease.
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Cite This Article
ÇELEBİ, Z. K., TURGUT, D., ERDOĞMUŞ, Ş., AVŞAROĞLU, E., MUŞABAK, H. U., ÇOLAK, T. (2021). The Mutation Identified in TWEAK-Fn14 Pathway May Affect the Clinical Course of IgA Nephropathy/HenochSchönlein Purpura Nephritis: A Case Report. Turkish journal of nephrology (Online), Cilt: 30 - Sayı: 3, 250–252. https://ajindex.com/articles/374825
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