The oculocerebrorenal syndrome of Lowe – diagnostic and therapeutic problems in Polish health care system
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Szpital Międzyrzecki Sp. z o.o., Międzyrzecz
Specjalistyczny Zakład Opieki Zdrowotnej nad Matką i Dzieckiem, Poznań
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Tomasz Jarmoliński   

Szpital Międzyrzecki Sp. z o.o., ul. Konstytucji 3 Maja 35, 66–300 Międzyrzecz
Ann. Acad. Med. Siles. 2017;71:92-98
The oculocerebrorenal syndrome described by C.U. Lowe in 1952 is a rare genetic defect (prevalence 1:500 000) caused by mutation of the OCRL gene which encodes phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Its location on chromosome X (Xq25-26) leads to an X-linked recessive mode of inheritance. A typical clinical triad characterizing the disease consists of congenital cataract, mental retardation and proximal tubulopathy (secondary Fanconi syndrome without glycosuria) with slow progression to end stage kidney disease in the 2nd–4th decade. There are many other symptoms reported like: growth retardation, glaucoma, buphthalmos, muscle hypotonia, neuromotor retardation, behavioral abnormalities (aggression, temper tantrums, repetitive purposeless movements), ventriculomegaly, contractures, arthropathy, osteopenia, cryptorchidism, dental anomalies, skin cysts and bleeding disorders. Preliminary diagnosis may be based on the clinical picture with a typical sequence of symptoms starting from cataracts, hypotonia with a lack of deep tendon reflexes and tubular proteinuria. Final identification of the disease is confirmed by molecular testing with one out of more than 200 known mutations (or de novo variant) found. Here we reported a 2-year-old boy with the clinical picture of Lowe syndrome (congenital cataract, hypotonia, psychomotor development retardation and tubulopathy), examined and treated in many medical centers. The final diagnosis was confirmed by genetic testing planned in the regional hospital in Międzyrzecz and performed by prof. Michael Ludwig from the Laboratory of Molecular Biology at University of Bonn, Germany. A single hemizygous deviation in exon 13 (c.1351G > A) was found. Attention was paid to the purpose of early notification of such patients to the national registry POLtube which facilitates molecular diagnosis.
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