Naslov
Fabry disease-case report

Autori
Roganović, Jelena ; Barišić, Ingeborg ; Fumić, Ksenija ; Jonjić, Nives

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Paediatria Croatica. Supplement 2 / Barišić, Ingeborg - Zagreb, 2009, 40-40

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Fabry disease

Sažetak
A 7-year-old boy was admitted to the University Children&#8217; s Hospital Rijeka, Croatia, with a two- year history of widespread petechial-like lesions and failure to thrive. Before the admission, he was seen by several pediatricians regarding these signs, without the working diagnosis. There was no history of pain, hypohidrosis, or any other symptom. A family history was unremarkable. On physical examination, the child had widely distributed angiokeratomas, most dense over the umbilical region. The weight and height were below the 5th percentile age curve. Fabry disease was confirmed by enzymatic activity measurement. The leucocyte-specific activity of alpha-galactosidase was 4 nmol/h/mg of protein (< 8% of the amount present in normal leukocytes). A careful diagnostic evaluation was performed. Ocular involvement was present showing cornea verticillata, conjunctival vascular tortuosity, aneurysms, and posterior subcapsular lenticular opacities. Bone densitometry showed osteoporosis with a high risk of fracture. Renal involvement presented with minimal proteinuria. Measured glomerular filtration rate was normal. A renal biopsy was done, showing changes in glomerular, tubulointerstitial and vascular compartments on light microscopy. The subsequent electron microscopy demonstrated characteristic myelin-like inclusions most prominently in the podocyte cytoplasm. There was no cardiac or neurologic involvement. Genetic analysis revealed p.W81X mutation. Due to the multisystemic involvement, enzyme replacement therapy with Fabrazyme has been started. The manifestations of Fabry disease during childhood are frequently under-recognized or misinterpreted. Because of the progressive nature of the disease and the availability of enzyme replacement therapy, there is a need for increased awareness of this disease among pediatricians.

Izvorni jezik
Engleski

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