Fabry disease

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Proteinuria

Increased levels of protein in the urine.


Total: 20

                       


(per page)
PMID (PMCID)
26837682
 MALE Young Adult
Coexistence of Fabry Disease and Membranous Nephropathy.
Liu Y, Xie H, Lin H, Chen S, Wang W, Zhao G, Zhang X.
Iran J Kidney Dis. 2016;10(1):48-50.
A 21-year-old man with no family history or characteristic symptoms of Fabry disease presented with proteinuria.
26454753
 MALE
Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease.
Kanai T, Ito T, Odaka J, Saito T, Aoyagi J, Betsui H, Yamagata T.
Eur J Pediatr. 2016;175(3):427-31.
It showed that the proteinuria emerged like surges, followed by temporary plasma GL-3 elevations in the early stages of classic Fabry disease.
26454753
 MALE
Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease.
Kanai T, Ito T, Odaka J, Saito T, Aoyagi J, Betsui H, Yamagata T.
Eur J Pediatr. 2016;175(3):427-31.
This observation of a young patient with classic Fabry disease about 5 years reveals that the long-term, low-dose agalsidase-946 caused proteinuria surges, but not persistent proteinuria, followed by temporary plasma GL-3 elevations, and agalsidase-946 at 1 mg/kg every other week could clear accumulated GL-3 from podocytes and was required to maintain normal urinalysis and plasma GL-3 levels.
26454753
 MALE
Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease.
Kanai T, Ito T, Odaka J, Saito T, Aoyagi J, Betsui H, Yamagata T.
Eur J Pediatr. 2016;175(3):427-31.
This observation of a young patient with classic Fabry disease about 5 years reveals that the long-term, low-dose agalsidase-946 caused proteinuria surges, but not persistent proteinuria, followed by temporary plasma GL-3 elevations, and agalsidase-946 at 1 mg/kg every other week could clear accumulated GL-3 from podocytes and was required to maintain normal urinalysis and plasma GL-3 levels.
26312237
(4544560)
 OTHER
Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease.
Sakuraba H, Tsukimura T, Tanaka T, Togawa T, Takahashi N, Mikami D, Wakai S, Akai Y.
J Nephropathol. 2015;4(3):91-6.
We experienced 3 male patients presenting with proteinuria and specific pathological changes strongly suggesting Fabry disease.
23913314
 MALE
A case of Fabry nephropathy with histological features of oligonephropathy.
Nishida M, Kosaka K, Hasegawa K, Nishikawa K, Itoi T, Tsukimura T, Togawa T, Sakuraba H, Hamaoka K.
Eur J Pediatr. 2014;173(8):1111-4.
For early diagnosis and timely management, careful examinations for proteinuria and renal function, in addition to establishing an effective screening system for Fabry disease, will be necessary.
24913738
 MIXED_SAMPLE Adult
Coexistence of Fabry disease and IgA nephropathy: a report of two cases.
Yin G, Wu Y, Zeng CH, Chen HP, Liu ZH.
Ir J Med Sci. 2014;183(4):671-5.
A 54-year-old male presented with proteinuria, hematuria, and hypertension, and a 33-year-old male presented with proteinuria without clinical signs or family history of Fabry disease.
24913738
 MIXED_SAMPLE Adult
Coexistence of Fabry disease and IgA nephropathy: a report of two cases.
Yin G, Wu Y, Zeng CH, Chen HP, Liu ZH.
Ir J Med Sci. 2014;183(4):671-5.
A 54-year-old male presented with proteinuria, hematuria, and hypertension, and a 33-year-old male presented with proteinuria without clinical signs or family history of Fabry disease.
21420783
 FEMALE Adult
Young woman with recurrent ischemic strokes diagnosed as Fabry disease: lessons learned from a case report.
Zenone T, Chan V.
Clin Neurol Neurosurg. 2011;113(7):586-8.
Fabry disease should be considered in unexplained cases of first or recurrent strokes in young patients disregarding the gender of the patient, especially when chronic kidney disease and/or proteinuria are present.
20120409
 MALE Adult
Neurological manifestation of Fabry disease--a case report.
Demarin V, Kes VB, Bitunjac M, Ivankovic M.
Coll Antropol. 2009;33 Suppl 2:177-9.
All young adults with stroke, especially if they have additional symptoms like angiokeratomas, proteinuria, neuropathic pain in toes and fingers should be tested for Fabry disease.
17234336
 FEMALE Adult
Fabry disease mimicking multiple sclerosis.
Saip S, Uluduz D, Erkol G.
Clin Neurol Neurosurg. 2007;109(4):361-3.
Fabry disease should be considered in young patients with unexplained stroke-like episodes, especially in those who have infarction in the vertebrobasilar arterial system, angiokeratomas, and proteinuria.
16721592
 MALE Child
Fabry disease and nephrogenic diabetes insipidus.
Wornell P, Dyack S, Crocker J, Yu W, Acott P.
Pediatr Nephrol. 2006;21(8):1185-8.
This child is the youngest reported Fabry disease patient with documented renal pathology and clinical manifestations of hypertension, proteinuria and nephrogenic diabetes insipidus.
16721592
 MALE Child
Fabry disease and nephrogenic diabetes insipidus.
Wornell P, Dyack S, Crocker J, Yu W, Acott P.
Pediatr Nephrol. 2006;21(8):1185-8.
We describe a boy diagnosed prenatally with Fabry disease who presented with polyuria, polydipsia, hypertension, hypokalaemia and proteinuria at 7 years of age.
15861341
 MIXED_SAMPLE Child
Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
Cybulla M, Schaefer E, Wendt S, Ling H, Krober SM, Hovelborn U, Schandelmaier S, Rohrbach R, Neumann HP.
Am J Kidney Dis. 2005;45(5):e82-9.
Because 1 brother, who died years ago at the age of 32 years of acute myeloid leukemia, also had chronic renal failure and proteinuria, the diagnosis of Fabry disease was entertained.
15861341
 MIXED_SAMPLE Child
Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
Cybulla M, Schaefer E, Wendt S, Ling H, Krober SM, Hovelborn U, Schandelmaier S, Rohrbach R, Neumann HP.
Am J Kidney Dis. 2005;45(5):e82-9.
We conclude that familial chronic renal failure combined with proteinuria is suggestive of Fabry disease, and such specific mutations as E66K predominantly may affect the kidneys.
15861341
 MIXED_SAMPLE Child
Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
Cybulla M, Schaefer E, Wendt S, Ling H, Krober SM, Hovelborn U, Schandelmaier S, Rohrbach R, Neumann HP.
Am J Kidney Dis. 2005;45(5):e82-9.
We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities.
15492942
 MALE
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
Rosenthal D, Lien YH, Lager D, Lai LW, Shang S, Leung N, Fervenza FC.
Am J Kidney Dis. 2004;44(5):e85-9.
His serum creatinine level was 1.7 mg/dL (130 micromol/L), and he had proteinuria with protein of almost 5 g/24 h. Fabry disease was diagnosed by means of kidney biopsy and low serum and leukocyte levels of alpha-galactosidase A.
14712441
 MALE
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
Meehan SM, Junsanto T, Rydel JJ, Desnick RJ.
Am J Kidney Dis. 2004;43(1):164-71.
These findings have important implications for the renal effectiveness of enzyme replacement therapy in classically affected patients and for the aggressive treatment of proteinuria in Fabry disease.
14712441
 MALE
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
Meehan SM, Junsanto T, Rydel JJ, Desnick RJ.
Am J Kidney Dis. 2004;43(1):164-71.
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant.
9375832
 FEMALE
A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote.
Yuen NW, Lam CW, Chow TC, Chiu MC.
Nephron. 1997;77(3):354-6.
This feature is important for the investigation of female patients with asymptomatic proteinuria, as in two thirds of Fabry heterozygotes the characteristic skin lesions are absent, and thus heterozygous Fabry disease may not be considered.