An Asymptomatic Heterozygous Female with Fabry Disease: Implications for Enzyme Replacement Therapy

Inagaki, Shinichiro; Migita, Makoto; Hayakawa, Mari; Fujita, Atushi; Yoshida, Junko; Ishizaki, Masamichi; Kotani, Masaharu; Sakuraba, Hitoshi; Shimada, Takashi; Murakami, Mutsumi; Fukunaga, Yoshitaka

doi:10.1272/jnms.72.387

Cited by 6 publications

(3 citation statements)

References 11 publications

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“…in chronic kidney disease patients who were not on dialysis was found to be 0.2% by Yeniçerio glu (0.4% in male, 0.0% in female) [19]. Although FD can coexist with several renal diseases, including IgA nephropathy, lupus nephritis, membranous GN, and crescentic nephritis, nephrotic syndrome as the first clinical clue of Fabry-related kidney damage remains rare, with only nine cases reported (shown in Table 2), of which five were male and four were female [20][21][22][23][24][25][26][27]. Zarate et al reported a 16-year-old male patient with minimal change nephrotic syndrome and underlying FD in 2010, who was responded well to steroid and ERT treatment, eventually his proteinuria became undetectable [26].…”

Section: Discussionmentioning

confidence: 99%

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

et al. 2020

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Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the a-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade proteinuria, and continuously progressive renal failure are common manifestations in FD males. However, sudden onset of nephrotic syndrome in FD, is rarely reported. Case report: A 32-year-old Chinese man was admitted to our hospital because of sudden onset of generalized edema due to nephrotic syndrome. He denied hypohidrosis, nocturia, and any history of episodic hand or foot pain. A few scattered angiokeratoma can be found on the low back skin on examination. Except for the similar locating pattern of angiokeratoma, no evident abnormality was found in the laboratory work up and physical examination of his younger brother. The patient was diagnosed with FD companying with minimal change disease by renal biopsy. Genetic analysis on our patient and his sibling revealed a nonsense GLA gene variant (c.707G > A, p.Trp236 Ã), which has been previously reported in FD. Immunotherapy alone (steroids and tacrolimus), but without enzyme replacement therapy, much improved the massive proteinuria. Follow up to date, his 24-h urine protein is stable at about 0.5 g, and renal function keeps normal. Conclusion: Sudden onset of nephrotic syndrome, although rare, may occur in FD, even as the primary renal manifestation, but this usually suggests additional renal disease. Immunosuppressive treatment should be considered in such FD patient companying with nephrotic syndrome.

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Section: Discussionmentioning

confidence: 99%

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

et al. 2020

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“…Como é uma doença relacionada ao cromossomo X, os homens apresentam as formas graves da doença e transmitem para todas as filhas, mas não aos filhos. Segundo a literatura, cerca de 10% das heterozigotas desenvolve insuficiência renal, o que pode ser explicado pela hipótese de inativação do X (15,18) . Segundo essa hipótese, um dos cromossomos X nas mulheres é aleatoriamente inativado nas células, numa tentativa de igualar a expressão de genes ligados ao X nos sexos masculino e feminino (15) .…”

Section: Discussionunclassified

Córnea verticilata - marcador clínico da doença de Fabry: relato de caso

Cordeiro¹,

Oréfice²,

Lasmar³

et al. 2007

Arq. Bras. Oftalmol.

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Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.

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“…Germain et al (2002) observed progressive hearing loss, with a significantly higher prevalence in patients with renal failure or cerebrovascular lesions (GERMAIN et al, 2002). According to the literature, around 10% of heterozygous women develop kidney failure (INAGAKI et al, 2005;WARNOCK et al, 2015).…”

Section: Symptomsmentioning

confidence: 99%

Fabry disease: integrative aspects from diagnosis to treatment

Gregório,

Da Cunha,

Azevedo

et al. 2024

Braz. J. Hea. Rev.

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Aim: identify the main aspects of Fabry disease (FD) from clinical suspicion to diagnosis, its vascular and cellular effects, in addition to treatment. Methods: This study is an integrative review of the literature supported by the search for articles in databases, Pub Med, Lilacs, Scielo, journals, and websites, with the following descriptors “Fabry disease”, “Fabry Disease treatment”, “Agalsidase-β”, “Agalsidase-α”, “Migalatast”, “inflammatory biomarkers” and “oxidative stress”, using original research articles and reviews between the years 1991 and 2023. This bibliographic survey was carried out in the period 01/10/2022 to 20/04/2023. Results: From a total of 340 articles found, 85 articles were selected. Discussion: The natural history of FD appears to be very complex, with multisystemic involvement and phenotypic variability. The analysis of FD symptoms is essential to the early diagnosis, aiming for greater success in therapy and prognosis, ensuring better patients’ quality of life and survival. Conclusion: This review addresses the diagnosis and main therapeutic approaches to guide health professionals and researchers, and to stimulate the development of research on FD.

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An Asymptomatic Heterozygous Female with Fabry Disease: Implications for Enzyme Replacement Therapy

Cited by 6 publications

References 11 publications

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

Córnea verticilata - marcador clínico da doença de Fabry: relato de caso

Fabry disease: integrative aspects from diagnosis to treatment

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