Browsing by Author "Acharya, Nikita"
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Publication CKD or is it a Fabry Disease: a case report(Madhesh Institute of Health Sciences (MIHS), 2025) Dahal, Polina; Mishra, Surendra; Suvedi, Anil; Acharya, NikitaABSTRACT: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This case report presents a rare instance of Fab- ry disease in a 37-year-old female patient, highlighting the unique clinical presentation with multisystem involvement. The patient presented with a complex array of symptoms, including loss of appetite, general- ized body weakness and significant blurring of vision accompanied by a history of hypertension and chronic kidney disease (CKD). Laboratory investigations revealed deranged complete blood count, elevated renal function parameters, and significant proteinuria. Ophthalmic evaluation showed decreased visual acuity in right eye with normal visual acuity in left eye, typical whorl like deposits in both corneas, tortuous con- junctival vessels and tortuous retinal vessels in both retinas with venous beading and flame shaped hemor- rhages prominent in left eye whereas right macula had significant macular edema. On further screening on her offspring, her male child also had similar whorl like deposits in both corneas. This case is a rare and unique example of Fabry disease in a female patient, with symptoms affecting multiple organ systems, includ- ing the renal, cardiovascular system and eye. It underscores the importance of maintaining a high index of suspicion for Fabry disease, even in female patients, and the need for a comprehensive diagnostic approach to ensure timely diagnosis and appropriate management. Early recognition of this rare condition in females is crucial for the implementation of targeted therapies to prevent the progression of multi-organ damage.