Management of Lowe syndrome: a case report
Journal Title: Paediatrica Indonesiana - Year 2015, Vol 55, Issue 3
Abstract
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA) in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl) living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4
Authors and Affiliations
Risky Prasetyo, Heru Setiawan, Ninik Soemyarso, Mohammad Noer, Irwanto Irwanto, Prastiya Gunawan, Rozalina Loebis, Sri Utomo, Ni Tirthaningsih
Keywords
Related Articles
- EP ID EP448546
- DOI 10.14238/pi55.3.2015.176-84
- Views 110
- Downloads 0
Thyroid hormone profile and PELOD score in children with sepsis
Background Thyroid hormonal dysfunction, also known aseuthyroid sick syndrome or nonthyroidal illness, can be seenin sepsis. There have been few studies on thyroid hormonedysfunction in septic children, as well as on a r...
Risk factors for hypertensive crisis in children with acute glomerulonephritis
Background Hypertensive crisis occurs in 1-4% of the hypertensive pediatric population, mostly due to acute glomerulonephritis (AGN). Some factors have been suggested to affect blood pressure (BP) in children, such as ag...
Serum ferritin, serum nitric oxide, and cognitive function in pediatric thalassemia major
Background Hemolysis and repeated blood transfusions in children with thalassemia major cause iron overload in various organs, including the brain, and may lead to neurodegeneration. Hemolysis also causes decreased level...
The effect of cyanotic and acyanotic congenital heart disease on children’s growth velocity
Background Congenital heart disease (CHD) can lead to failure to thrive. Decreased energy intake, malabsorption, increased energy requirements, and decreased growth factors (growth hormone/insulin-like growth factor 1 ax...
Correlation between vivax malaria infection and iron deficiency in children
Background Iron deficiency is considered to be a major public health problem around the world due to its high prevalence as well as its effect on growth, development, and infection-resistance in children. In malaria-ende...