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Lowe syndrome: report of five cases
Marta Liliane de Almeida Maia1, Maria Luiza Dautro Moreira do Val, Camila Penteado Genzani
1Division of Pediatric Nephrology, Departament of Pediatrics, UNIFESPEPM- Universidade Federal de São Paulo- SP- Brazil, Division of Pediatric Nephrology, Hospital Infantil Darcy Vargas, São Paulo, SP, Brazil.
Jornal Brasileiro De Nefrologia
|November 25, 2010
Summary
Early diagnosis and nutritional management are crucial for Lowe Syndrome (Oculocerebrorenal Dystrophy) patients. This approach helps prevent severe complications arising from metabolic imbalances in individuals with this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Nephrology
Background:
- Lowe Syndrome, also known as Oculocerebrorenal Dystrophy (OCRL), is an X-linked recessive disorder.
- Key features include ocular abnormalities (cataracts, glaucoma), central nervous system deficits (developmental delay, cognitive impairment), and renal dysfunction (Fanconi syndrome).
Purpose of the Study:
- To describe the clinical presentation and management of five male patients diagnosed with Lowe Syndrome.
- To highlight the importance of early detection and ongoing care in managing this rare condition.
Main Methods:
- A retrospective chart review was conducted on five male patients with OCRL.
- Data collected included clinical signs, symptoms, laboratory findings, and therapeutic interventions.
Main Results:
- Patients presented with cataracts, nystagmus, developmental delays, and growth deficits.
- Common renal manifestations included polyuria, polydipsia, metabolic acidosis, and various electrolyte and urine abnormalities.
- Skeletal issues like pathological fractures and delayed bone age were prevalent. One patient showed reduced glomerular filtration rate.
Conclusions:
- Early diagnosis and consistent medico-nutritional follow-up are essential for managing Lowe Syndrome.
- Proactive management can mitigate complications associated with metabolic disturbances and improve patient outcomes.
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