Publications by authors named "Saohoine Inthasot"
A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.
Endocrinol Diabetes Metab Case Rep
July 2024
Summary: Familial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium-glucose cotransporter 2, crucial for glucose reabsorption.
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- Nocardia is a common soil organism that can cause opportunistic infections, primarily affecting the lungs and skin, but rare cases can involve the testis.
- The report details a 75-year-old immunocompromised man who developed epididymo-orchitis and necrotic abscesses after exposure to Nocardia brasiliensis, leading to complex treatment that included surgery and prolonged antibiotic therapy.
- This case is notable as it is the first documented instance of Nocardia brasiliensis affecting multiple body sites (skin, testis, brain, and spinal cord), emphasizing the challenges in diagnosing atypical nocardiosis and highlighting the need for timely bacterial culture.