Article Per Year (5 Year)
p-Index From 2021 - 2026
1.325
P-Index
This Author published in this journals
All Journal Paediatrica Indonesiana Journal Of Vocational Health Studies Callosum Neurology Journal : Jurnal Berkala Neurologi Bali Majalah Biomorfologi (Biomorphology Journal) Indian Journal of Forensic Medicine & Toxicology AKSONA
Sri Andreani Utomo, Sri Andreani
Department Of Radiology, Faculty Of Medicine Universitas Airlangga; Dr. Soetomo General Academic Hospital Surabaya, Indonesia; Asian Musculoskeletal Society
Biochemistry, Genetics & Molecular Biology Health Professions Medicine & Pharmacology Neuroscience Public Health

Published : 10 Documents Claim Missing Document
Claim Missing Document
Check
Articles

Found 1 Documents
Search
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 Abdul Hafid B Agus Jati Waluyo Ali Mustofa Ardiansyah, Djohan Arief Apriliani, Karina Sandra Budi Utomo Cendikiawan, Hans Endra Wibisono Harmawan Heru Setiawan Irwanto, Irwanto Joni Susanto, Joni Joni Wahyuhadi, Joni Komang Wahyu Kurniawan Kusumastuti, Kurnia Mohammad Sjaifullah Noer Muhaimin Muhaimin Muhaimin Muhammad Faris Muhammad Faris Muqmiroh, Lailatul Ni Wayan Tirthaningsih Nikky Anis Suroiyah, Nikky Anis Ninik Asmaningsih Soemyarso Prastiya Indra Gunawan Risalatul Latifah Risky Vitria Prasetyo Rosy Setiawat Rozalina Loebis, Rozalina Sensusiati, Anggraini Dwi Subagio, Eko Agus Tedy Apriawan Tsabita Hadid Valeryna, Natasha Vatine Adila Vita Kusuma Rahmawati Wibowo, Caesaroy Afif