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Irwanto, Irwanto
Departemen Ilmu Kesehatan Anak RSUD Dr. Soetomo Universitas Airlangga Jl. Mayjen Prof. Dr. Moestopo 6–8 Surabaya
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Journal : paediatrica indonesiana

 1 
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 Ahmad Suryawan Alfira Nailatul Izzah Ana Rizqy Soliha Andriati Andriati Andy Cahyadi Anggi Sepfana Zizilia Annis Catur Adi Arief Wibowo Astik Umiyah Augustien Julia Sawitri Bagus Setyoboedi Bambang Purwanto Cheifia Krissanti Sasono Destasari Tri Hartanti Devika Aulia Dewi Astasari Dominicus Husada Dwi Susanti Dwi Yanti Endang Retnowati Fardana, Nur Ainy Farichah Fa'ilal Chusna Fatimah Indarso Fatma Tiara Sari Febriyana, Nining Fitriana Ciptaningtyas Giwang Yayi Retnosari Hanna Dyahferi Anomsari Hapsari Widya Ningtiar HERAWATI, LILIK Heru Setiawan I Dewa Ayu Agung Sridharaswari I Dewa Gede Ugrasena I Gusti Ayu Indah Ardani I Gusti Ayu Putu Eka Pratiwi Ilham Ikhtiar Ivon Diah Wittiarika Juliatus Sholikha Kamila Fadma Putri Sumarsono Komang Ayu Witarini Kuntoro Kuntoro Lailatul Fitria Sahid Lisa Pangemanan Lutfiya, Indah Martono Martono Mega Merdeka Pertiwi Mei Lestari Ika Widyyati Mira Irmawati Moersintowarti B Narendra Moersintowati B. Narendra Mohammad Sjaifullah Noer Muhammad Helmi Imaduddin Ni Wayan Tirthaningsih Ninik Asmaningsih Soemyarso Nur Mufida Wulan Sari Nur Mukarromah Prastiya Indra Gunawan Puput Septiana Rachmat Hargono Rakhmalia Imeldawati Risa Etika, Risa Risky Vitria Prasetyo Rozalina Loebis, Rozalina Rufina Adelia Widyatama Setiawati, Yunias Sri Andreani Utomo, Sri Andreani Sulistiawati - Sylviati M. Damanik Vista Claudia Sari Wahyu Agung Budi Alamsyah Wahyul Anis Widati Fatmaningrum Windhu Purnomo