Management of Lowe syndrome: a case report

  • Risky Vitria Prasetyo Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Heru Setiawan Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Ninik Asmaningsih Soemyarso Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Mohammad Sjaifullah Noer Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Irwanto Irwanto Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Prastiya Indra Gunawan Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Rozalina Loebis Department of Ophthalmology, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Sri Andreani Utomo Department of Radiology, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
  • Ni Wayan Tirthaningsih Department of Clinical Genetics, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia.
Keywords: Lowe syndrome, oculocerebrorenal syndrome of Lowe, OCRL, multisystem disorder, anomalies, eyes, nervous system, kidneys

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

References

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Published
2015-06-30
How to Cite
1.
Prasetyo R, Setiawan H, Soemyarso N, Noer M, Irwanto I, Gunawan P, Loebis R, Utomo S, Tirthaningsih N. Management of Lowe syndrome: a case report. PI [Internet]. 30Jun.2015 [cited 29Mar.2024];55(3):176-4. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/59
Section
Articles
Received 2016-02-12
Accepted 2016-02-12
Published 2015-06-30