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Heru Setiawan
Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
Health Professions Medicine & Pharmacology

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Management of Lowe syndrome: a case report Risky Vitria Prasetyo; Heru Setiawan; Ninik Asmaningsih Soemyarso; Mohammad Sjaifullah Noer; Irwanto Irwanto; Prastiya Indra Gunawan; Rozalina Loebis; Sri Andreani Utomo; Ni Wayan Tirthaningsih
Paediatrica Indonesiana Vol 55 No 3 (2015): May 2015
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (2093.872 KB) | DOI: 10.14238/pi55.3.2015.176-84

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
Co-Authors Irwanto, Irwanto Mohammad Sjaifullah Noer Ni Wayan Tirthaningsih Ninik Asmaningsih Soemyarso Prastiya Indra Gunawan Risky Vitria Prasetyo Rozalina Loebis, Rozalina Sri Andreani Utomo, Sri Andreani