Fabry’s disease discovered with chance urinary mulberry cells: a case report

Nakamichi, Takashi; Miyazaki, Mariko; Nakayama, Keiichi I.; Sato, Mitsuhiro; Akiu, Naoki; Sato, Toshinobu; Sato, Hiroshi; Ito, Sadayoshi

doi:10.1007/s13730-012-0038-x

Cited by 18 publications

(11 citation statements)

References 14 publications

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“…Moreover, as FD is a rare disease, its early detection is also important. One useful test in FN screening involves the detection of mulberry cells in urinary sediment, which has a low cost and is less invasive than other tests such as renal biopsy or gene analysis [43]. All of our four cases presented with mulberry cells in their urine sediment.…”

Section: Present Casementioning

confidence: 84%

A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

Saito¹,

Kimura

Takeuchi³

et al. 2016

Ren Replace Ther

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Background: Fabry disease is a rare X-linked hereditary disorder (Xq22) caused by a deficiency in alphagalactosidase (α-GAL) activity. This enzyme deficit results in the systemic accumulation of glycophospholipids, leading to multi-organ failure including the heart, kidneys, and brain. Enzyme replacement therapy (ERT) improves the prognosis of patients with Fabry disease. We describe a case showing progressive renal failure despite ERT.Case presentation: An 18-year-old obese male patient (body mass index (BMI) 29.9 kg/m 2 ) was admitted for detailed examination of mild degree hypertension (150/65 mmHg) and proteinuria occurring for 2 years prior to admittance. Laboratory tests revealed mostly normal kidney function (serum creatinine 0.5 mg/dL, estimated glomerular filtration rate 181 mL/min/m 2 ) with low α-GAL activity, a significant level of proteinuria (0.5-1.0 g/day), and the presence of mulberry cells in the urinary sediment. Renal biopsy demonstrated marked glomerulomegaly with diffuse vacuolization of the glomerular epithelial cells and focal segmental glomerulosclerosis. Electron microscopy revealed typical zebra bodies in the glomerular epithelial cells and effacement of foot processes of the epithelium. We could not find any cause of glomerulomegaly except for obesity. α-GAL gene analysis revealed a missense mutation in R301Q. Although ERT with agalsidase α was initiated, his renal function declined, and hemodialysis was initiated at 22 years of age. Conclusions:We present a case of rapid progression of Fabry nephropathy despite ERT. As with other renal diseases, obesity may aggravate the progression of Fabry nephropathy.

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Section: Present Casementioning

confidence: 84%

A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

Saito¹,

Kimura

Takeuchi³

et al. 2016

Ren Replace Ther

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“…Another remarkable finding of our present analysis is the confirmation of the usefulness of the mulberry cell count for pathological assessments of the efficacy of ERT. Mulberry cells and mulberry bodies have been recognized as a useful tool for detecting various types of Fabry disease at earlier time points [7,9,[14][15][16]. Mulberry cells and mulberry bodies are characteristic features of Fabry nephropathy, and they are distinguishable from oval fat bodies and fat particles based on the inner lamellar appearance of mulberry bodies.…”

Section: Discussionmentioning

confidence: 99%

Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy

et al. 2020

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Fabry disease is an X-linked inherited lysosomal storage disorder caused by a deficiency of α-galactosidase A activity, resulting in the intracellular accumulation of globotriaosylceramide and related glycosphingolipids. The phenotypes of Fabry disease in both males and females are grouped into two categories: the classical type and the late-onset type. The classical type shows general symptoms including angiokeratoma(s), acroparesthesia, hypohidrosis, corneal opacity, and gastrointestinal symptoms from an early age. The late-onset type shows cardiac or renal (or both) symptoms from a late age. We present herein the clinical course and pathological findings of two late-onset hemizygous Fabry patients after the initiation of enzyme replacement therapy (ERT), along with their mulberry cell counts during treatment. One patient's case was a renal-variant type without general symptoms; he showed stable renal function and mild proteinuria but little histological improvement with no change in the mulberry cell count during ERT. The other patient had a cardiac-variant type with renal pathological abnormality. He achieved a mild improvement of renal pathological findings, and his mulberry cell count gradually decreased during the treatment. These findings indicate that monitoring the mulberry cell count might help assess the efficacy of ERT, as a renal pathology tool.

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“…Recently, many Japanese researchers have found mulberry cells to be an inexpensive, noninvasive, and useful diagnostic tool [12][13][14]. Mulberry cells and mulberry bodies are the characteristic features of Fabry nephropathy, and are distinguishable from oval fat bodies and fat particles based on the inner lamellar appearance of mulberry bodies.…”

Section: Discussionmentioning

confidence: 99%

Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease

et al. 2017

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Fabry disease is an X-linked lysosomal storage disorder caused by a lack of a-galactosidase A activity, which leads to the accumulation of globotriaosylceramide in various organs. A complete lack of a-galactosidase A activity in a hemizygous male is the classical phenotype, and some hemizygous males show primarily cardiac and/or renal symptoms that appear in adulthood; this is called the variant type or the late-onset type. The kidney and heart are the major target organs, with damage to these organs related to mortality. Thus, in Fabry patients, early detection and early treatment are critical to longevity. Here, we present a 55-year-old Japanese male patient who was diagnosed with late-onset Fabry nephropathy with cardiomyopathy but with no abnormal urinary findings except for urinary mulberry cells and mulberry bodies. In spite of the absence of abnormal urinary findings, the light microscopic and electron microscopic pathological findings showed extensive deposition of globotriaosylceramide to podocytes. In this paper, we propose that the presence of mulberry cells and mulberry bodies can be used for the earlier detection of Fabry nephropathy, especially the lateonset type.

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Fabry’s disease discovered with chance urinary mulberry cells: a case report

Cited by 18 publications

References 14 publications

A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy

Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease

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