Humans ; Fabry Disease/therapy*

Fabry Disease ; diagnosis ; therapy ; Humans

Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the alpha-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.
alpha-Galactosidase ; Child ; Enzyme Replacement Therapy ; Fabry Disease ; Humans ; Siblings

Humans ; Fabry Disease/therapy* ; Hypertrophy, Left Ventricular/diagnosis* ; Diagnosis, Differential

Humans ; Fabry Disease/therapy* ; Hypertrophy, Left Ventricular/diagnosis* ; Diagnosis, Differential

Fabry disease is a rare X-linked hereditary condition caused by mutations in the α-galactosidase A (GLA) gene, resulting in decreased α-GAL A enzyme activity. The clinical manifestations of Fabry disease are diverse, which leads to delays in diagnosis and treatment, thereby increasing the disease burden for patients and their families. Given its characteristics, multidisciplinary treatment (MDT) is critical for the long-term management of Fabry disease, and should include nephrology departments, cardiovascular departments, neurology departments, and pediatric department, among others. This study focuses on early screening for Fabry disease, the indication for initiating enzyme replacement therapy, pre-treatment evaluation, and monitoring to provide practical guidance for Chinese clinicians.
Child ; Humans ; Fabry Disease/drug therapy* ; alpha-Galactosidase/therapeutic use* ; Mutation ; Enzyme Replacement Therapy

Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent alpha-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.
alpha-Galactosidase ; Analgesics ; Burns ; Disease Progression ; Early Diagnosis ; Enzyme Replacement Therapy ; Fabry Disease ; Foot ; Humans ; Hypohidrosis ; Isoenzymes ; Mass Screening ; Pain Clinics ; Pain Management ; Toes

Angiokeratomas are cutaneous vascular lesions that are characterized by dilated thin-walled blood vessels that lay in the upper part of the dermis, and this condition is mostly associated with epidermal reactions such as acanthosis, hyperkeratosis and elongation of rete ridges. Four variants have been described (angiokeratoma of Fordyce, angiokeratoma of Mibelli, angiokeratoma corporis diffusum, and solitary or multiple angiokeratomas). Among these variants, angiokeratoma of Fordyce develops mainly in elderly Caucasian men and it is common on the genitalia. Angiokeratomas are blue to purple, smooth, 2- to 5-mm papules on the scrotum, penile shaft or glans. They generally appear to multiply during life, but they occasionally present as single lesions. They may bleed after trauma and they may be mistaken for a nevus, melanoma or Kaposi sarcoma. Electrocautery or laser ablation can be offered for treatment. Various studies have recently reported successful treatment with argon laser, copper vapor laser, variable pulse width 532 nm neodymium:yttrium-aluminium-garnet (Nd:YAG) laser, 532 nm KTP (potassium-titanyl-phosphate) laser and flashlamp-pumped pulsed dye laser (PDL). We report here on a case of angiokeratoma that was treated with a 532nm KTP laser.
Aged ; Angiokeratoma ; Argon ; Blood Vessels ; Dermis ; Electrocoagulation ; Fabry Disease ; Genitalia ; Humans ; Laser Therapy ; Lasers, Dye ; Lasers, Gas ; Lasers, Solid-State ; Male ; Melanoma ; Nevus ; Sarcoma, Kaposi ; Scrotum

Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, which results in the intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. We report 52- and 55-year-old women with proteinuria and hematuria that were proven to be due to Fabry disease. A gene analysis using PCR direct sequencing confirmed a missense mutation of the GLA (alpha-galactosidase A) gene. Electron microscopy of a kidney biopsy showed lamella inclusion bodies, which are typical findings of Fabry disease. The patients were treated with enzyme replacement therapy as outpatients. They had a reduction in proteinuria and normal renal function.
alpha-Galactosidase* ; Biopsy* ; Enzyme Replacement Therapy ; Fabry Disease* ; Female ; Genes, vif ; Hematuria ; Humans ; Inclusion Bodies ; Kidney* ; Microscopy, Electron ; Middle Aged ; Mutation, Missense ; Outpatients ; Polymerase Chain Reaction ; Proteinuria*

Fabry disease is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. This deficiency results in progressive lysosomal accumulation of glycosphingolipid with particular globotriaosylceramide which accumulates in the heart, kidneys, and the nervous system. The classic Fabry diease affects males, who typically experience an early onset of neuropathic pain, angiokeratoma, and anhydrosis or hypohydrosis. The introduction of enzyme replacement therapy necessitates early awareness of Fabry disease and knowledge of disease- related complications. We experienced a man presenting with acroparesthesia, anhydrosis and proteinuria, who had no residual alpha-galactosidase A activity on leukocytes and mutation analysis demonstrated thiamine deletion at position 1077, exon 7 of GLA gene. He was initially diagnosed as focal segmental glomerulosclerosis without electron microscopic examination three years ago. Now he is being treated with recombinant alpha-galactosidase A via intravenous administration for 1 month.
Administration, Intravenous ; alpha-Galactosidase ; Angiokeratoma ; Enzyme Replacement Therapy ; Exons ; Fabry Disease* ; Glomerulosclerosis, Focal Segmental* ; Heart ; Humans ; Kidney ; Leukocytes ; Lysosomal Storage Diseases ; Male ; Nervous System ; Neuralgia ; Proteinuria ; Thiamine