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Articolul urmator |
886 33 |
Ultima descărcare din IBN: 2024-05-14 11:51 |
Căutarea după subiecte similare conform CZU |
616-007-02-092-071 (1) |
Patologie. Medicină clinică (6994) |
SM ISO690:2012 HADJIU, Svetlana, SPRINCEAN, Mariana, NEAMTSU, Bogdan Mihai, NEAMŢU, Mihai-Leonida, BENISH, Svetlana, EGOROV, Vladimir, CĂLCÎI, Cornelia, MATACUTA, Ioana, CAZAN, Corina, REVENCO, Ninel. Lowe syndrome or oculocerebrorenal syndrome: etiopathogenesis, clinical picture and treatment (the synthesis). A clinical case.. In: Buletin de Perinatologie, 2020, nr. 2(87), pp. 113-120. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 2(87) / 2020 / ISSN 1810-5289 | ||||||
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CZU: 616-007-02-092-071 | ||||||
Pag. 113-120 | ||||||
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Lowe syndrome, also called oculocerebrorenal syndrome, OCRS, is a multisystemic condition characterized by various abnormalities affecting the eye, nervous system (NS) and kidneys. This syndrome (Sm) is a rare disease, with an estimated prevalence in the general population of about 1 in 500000. Th e syndrome is caused by mutations in the OCRL gene mapped on the Xq25-26 locus, and encodes a inositol polyphosphate-5-phosphatase which metabolize phosphatidylinositol 4,5-bisphosphate (PIP2) in the Golgi apparatus, and, having the X-linked recessive type of inheritance, develops mostly in men. Symptoms suggestive of the disease are bilateral congenital cataract, glaucoma, severe psychomotor retardation and proximal renal Fanconi-type tubulopathy. Enzymatic and molecular tests are used to confi rm the diagnosis. Tests for the diagnosing of the disease in the prenatal period may also be available. The treatment is complex, and includes therapeutics as well as interventional approaches. Surgical treatment is applied to correct of ocular problems, e. g., glaucoma, simultaneously with the control of tubular acidosis and administering the drugs which are given to maintain bone function and relieve behavioral problems; as well, physical and speech therapy is indicated. The prognosis is complicated. In this study we present a clinical case of a boy of small age, diagnosed with Lowe Sm, based on congenital cataracts, renal tubular dysfunction and neurological disorders. Genetic analysis found a mutation that causes an amino acid substitution in exon 9 of the OCRL gene. |
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