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 76
- Downloads 0
Outcomes of Tetralogy of Fallot repair performed after three years of age
subject of debate, however, in general repair before 3 years of age has resulted in good myocardial performance. Late repair has led to prolonged QRS duration, ventricular dysfunction in terms of myocardial performance i...
Diet and estradiol level in adolescent girls
AbstractBackground Nutritional intake in adolescent girls in Indonesia has been well studied, but there has been little study on its influence on serum estradiol levels. A high estradiol level has been associated with hi...
Number of siblings and allergic rhinitis in children
Background Allergic rhinitis is one of the most common chronic diseases of childhood. Recent studies have suggested that having fewer siblings was associated with allergic rhinitis and atopic diseases in children. Previo...
West syndrome and mosaic trisomy 13: A case report
Trisomy 13, or Patau syndrome, is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly, and microphthalmia, with an incidence ranging between 1/5,000 and 1/20,000 births.1 M...
A comparison of axillary and tympanic membrane to rectal temperatures in children
Background Core body temperature measurement is not commonly done in pediatric populations because it is invasive and difficult to perform. Therefore, axillary and tympanic membrane temperature measurements are preferabl...