A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

[fabry disease]

Anderson /Fabry disease expresses a wide range of clinical variability in patients that it is possible to explain referring to a genetic variability with numerous mutations described in the literature (more than 600 ).We report some clinical cases of some members of a Sicilian family to express phenotypical variability of this disease in subjects with the same genetic mutation RESULTS : The first case was a 59 -year -old female . Brain MRI revealed right frontal periventricular white matter of likely vascular -degenerative origin . The proband 's alpha galactosidase A activity was 3 .7 nmol /mL /h . Molecular genetics revealed a polymorphism : -10 C >T ; IVS 2 -76 _80 del 5 ; IVS 4 -16 A >G ; IVS 6 -22 C >T . The second case was a 30 year -old male affected by acroparesthesias and hypoidrosis since he was an adolescent . Renal impairment was first detected at age 29 ; it began with high plasma levels of creatinine and microalbuminuria date . The third case was a 41 year -old daughter that presented with acroparesthesias , hypoidrosis since she was very young . The patient 's alpha galactosidase A activity was 4 .1 nmol /mL /h , in whole blood , which is compatible with heterozygote subject for Fabry 's disease or healthy control . The fourth case was a male grandson of the proband , 9 year -old child . He had a classic gastrointestinal involvement . He complained of recurrent abdominal pain , post prandial bloating and pain . This child 's enzyme activity was 1 .65 nmol /mL /h . In cases 2 , 3 , and 4 , molecular genetics revealed a polymorphism : -10 C >T ; IVS 2 -76 _80 del 5 ; IVS 4 -16 A >G ; IVS 6 -22 C <T DISCUSSION : A recent study reported that IVS 4 +68 A >G , IVS 6 -22 C >T polymorphisms occurred in 8 .9 % and 3 .7 % of the subjects respectively , and the significance of this haplotype in FD pathology remains unknown but possibly suggestive of Anderson /Fabry disease .

Diseases
Validation

Diseases presenting "first case" symptom

achondroplasia

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

classical phenylketonuria

coats disease

cohen syndrome

congenital toxoplasmosis

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dentin dysplasia

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

esophageal adenocarcinoma

esophageal carcinoma

fabry disease

familial mediterranean fever

focal myositis

gm1 gangliosidosis

harlequin ichthyosis

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

krabbe disease

lamellar ichthyosis

legionellosis

liposarcoma

locked-in syndrome

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

systemic capillary leak syndrome

thoracic outlet syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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