scholarly journals Myeloid bodies caused by COQ2 mutation: a case with the coincidence of COQ2 nephropathy and IgA nephropathy

2021 ◽  
Author(s):  
Hai-Feng Ni ◽  
Yan Yang ◽  
Chun-Qing Li ◽  
Tong-Zhou Zhou ◽  
Bi-Cheng Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Iga Nephropathy ◽  
Curative Effect ◽  
Myeloid Bodies ◽  
Cationic Amphiphilic Drugs ◽  
First Case ◽  
Amphiphilic Drugs ◽  
Gla Gene ◽  
Coq10 Supplementation

Abstract IgA nephropathy (IgAN) combined with myeloid bodies have been reported in Fabry disease (FD). However, we excluded the diagnosis of FD by no mutation in GLA gene. And she denied the use of cationic amphiphilic drugs. Interestingly, we identified a novel missense mutation for COQ2, which can cause COQ2 mutation associated nephropathy. The patient we reported also had heteromorphic mitochondria, and a good curative effect after CoQ10 supplementation. Combined these, this patient was diagnosed with COQ2 nephropathy and IgAN. To our knowledge, this is the first case report that COQ2 nephropathy with pathologic manifestations of myeloid body in podocytes.

First case of late onset cardiac phenotype Fabry disease due to an AluYb8 insertion in exon 7 of the GLA gene

2019 ◽  
Vol 20 (10) ◽  
pp. 1182-1182
Author(s):  
Constantin Gatterer ◽  
Dietrich Beitzke ◽  
Raute Sunder-Plassmann ◽  
Gere Sunder-Plassmann ◽  
Senta Graf
Keyword(s):  
Fabry Disease ◽  
Late Onset ◽  
Cardiac Phenotype ◽  
First Case ◽  
Gla Gene

scholarly journals A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2012 ◽  
Vol 12 (1) ◽  
Author(s):  
Antonio Pisani ◽  
Massimo Imbriaco ◽  
Carmela Zizzo ◽  
Giuseppe Albeggiani ◽  
Paolo Colomba ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Female Patient ◽  
Gla Gene

scholarly journals Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

2021 ◽  
Vol 14 (12) ◽  
pp. 1304
Author(s):  
Valeria Di Stefano ◽  
Marta Mancarella ◽  
Antonia Camporeale ◽  
Anna Regalia ◽  
Marta Ferraresi ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Involvement ◽  
Late Onset ◽  
Left Ventricular ◽  
Lysosomal Storage ◽  
Fabry Patient ◽  
First Case ◽  
Gla Gene ◽  
Stage Renal Disease ◽  
End Stage

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A>G, p.Asn215Ser) missense mutation usually results in a late-onset phenotype presenting with isolated cardiac involvement. We herein present the case of a patient with N215S mutation with cardiac involvement, namely left ventricular hypertrophy and ventricular arrhythmias, and end-stage renal disease requiring kidney transplantation. To the best of our knowledge, this is the first report of a kidney-transplanted Fabry patient treated with oral pharmacologic chaperone migalastat.

The first case report of Pembrolizumab inducing thyroiditis and hypophysitis

2020 ◽  
Author(s):  
Rahman Maraqa Sima Abdel ◽  
Robert McMahon ◽  
Anusha Pinjala ◽  
Gastelum Alheli Arce ◽  
Mohsen Zena
Keyword(s):  
Case Report ◽  
First Case

Harel-Yoon syndrome: the first case report from Saudi Arabia

2020 ◽  
pp. 22-27 ◽  
Author(s):  
Alaa AlAyed ◽  
Manar Samman ◽  
Abdul Peer-Zada ◽  
Mohammed Almannai
Keyword(s):  
Saudi Arabia ◽  
Case Report ◽  
First Case

Case Report: Management of a Patient with mTBI and Vestibular Hypofunction with the Binasal Occlusion Technique

2018 ◽  
pp. 87-90
Keyword(s):  
Case Report ◽  
Visual Motion ◽  
Hand Movement ◽  
Motion Sensitivity ◽  
Vestibular Hypofunction ◽  
First Case ◽  
Neurological Exam ◽  
History Of ◽  
Occlusion Technique ◽  
Visual Vertigo

Background: Binasal Occlusion (BNO) is a clinical technique used by many neurorehabilitative optometrists in patients with mild traumatic brain injury (mTBI) and increased visual motion sensitivity (VMS) or visual vertigo. BNO is a technique in which partial occluders are added to the spectacle lenses to suppress the abnormal peripheral visual motion information. This technique helps in reducing VMS symptoms (i.e., nausea, dizziness, balance difficulty, visual confusion). Case Report: A 44-year-old AA female presented for a routine eye exam with a history of mTBI approximately 33 years ago. She was suffering from severe dizziness for the last two years that was adversely impacting her ADLs. The dizziness occurred in all body positions and all environments throughout the day. She was diagnosed with vestibular hypofunction and had undergone vestibular therapy but reported little improvement. Neurological exam revealed dizziness with both OKN drum and hand movement, especially in the left visual field. BNO technique resulted in immediate relief of her dizziness symptoms. Conclusion: To our knowledge, this is the first case that illustrates how the BNO technique in isolation can be beneficial for patients with mTBI and vestibular hypofunction. It demonstrates the success that BNO has in filtering abnormal peripheral visual motion in these patients.

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