MARC-APR 03
14-05-03
14:48
™ÂÏ›‰·133
¶·È‰È·ÙÚÈ΋ 2003;66:133-139
∂ƒ∂À¡∏∆π∫∏ ∂ƒ°∞™π∞
Paediatriki 2003;66:133-139
ORIGINAL ARTICLE
ªÂÙ·‚ÔÏÈο ÓÔÛ‹Ì·Ù· Û ·È‰È¿ Î·È Ó¤Ô˘˜. ¶ÚÒÙË ÈÏÔÙÈ΋ ÌÂϤÙË ÛÙËÓ ∫Ú‹ÙË ∂. ªÈ¯·ËÏ›‰Ô˘1, Ã. §ÈÔÓ‹˜3, ª. ™ËÏÈÒÙË2, ¶. ¶·Û·Ï¿ÎË1, ¶. ¡ÈÎËÙ¿Î˘3, ∂. ¶··‰ÔÔ‡ÏÔ˘1, ¡. ∫·Ù˙ËÏ¿Î˘1, Œ. ∆Û·¿ÎË1, ∏. ª·ÓÈ·‰¿ÎË1, ¶. µÔÚÁÈ¿1, ∞. ∫·ÓÈÙÛ¿Î˘4, ∂. ∫fiÎÔÚË5, R. A. Wevers6, ™. ™Ì˘Ú¿ÎȘ1, ∞. ∂˘·ÁÁÂÏ›Ô˘2
Inherited metabolic disorders in children and young adults. First pilot study in Crete H. Michailidou1, C. Lionis3, M. Spilioti2, P. Paspalaki1, P. Nikitakis3, E. Papadopoulou1, N. Katzilakis1, E. Tsapaki1, H. Maniadaki1, P. Vorgia1, A. Kanitsakis4, E. Kokori5, R. A. Wevers6, S. Sbyrakis1, A. Evangeliou2
¶ÂÚ›ÏË„Ë: T· ÂÓ‰ÔÁÂÓ‹ ÌÂÙ·‚ÔÏÈο ÓÔÛ‹Ì·Ù· Û˘¯Ó¿ ˘Ô‰È·ÁÈÁÓÒÛÎÔÓÙ·È. O ÛÎÔfi˜ Ù˘ ÈÏÔÙÈ΋˜ ·˘Ù‹˜ ÌÂϤÙ˘ Â›Ó·È Ó· ·ÚÔ˘ÛÈ¿ÛÂÈ Ù· ÚÒÙ· ·ÔÙÂϤÛÌ·Ù· Î·È ÙËÓ ÂÌÂÈÚ›· Ô˘ ·ÔÎÙ‹ıËΠ·fi ÙË Û˘ÓÂÚÁ·Û›· È·ÙÚÒÓ Ô˘ ÂÚÁ¿˙ÔÓÙ·È ÛÙËÓ ÚˆÙÔ‚¿ıÌÈ· ÊÚÔÓÙ›‰· ˘Á›·˜ Û ·ÁÚÔÙÈΤ˜ ÂÚÈÔ¯¤˜ Ù˘ ∫Ú‹Ù˘ Ì ¤Ó· ÂÍÂȉÈÎÂ˘Ì¤ÓÔ ·ÓÂÈÛÙËÌÈ·Îfi ΤÓÙÚÔ. OÈ ÁÈ·ÙÚÔ› Ô˘ ÂÚÁ¿˙ÔÓÙ·È Û 8 ΤÓÙÚ· ˘Á›·˜ ÛÙËÓ ·ÁÚÔÙÈ΋ ÂÚÈÔ¯‹ Ù˘ ∫Ú‹Ù˘ (·È‰›·ÙÚÔÈ Î·È ÁÂÓÈÎÔ› È·ÙÚÔ›) ·Ú¤ÂÌ„·Ó 112 ·ÛıÂÓ›˜ Ô˘ ÏËÚÔ‡Û·Ó ¤Ó· ÙÔ˘Ï¿¯ÈÛÙÔÓ ·fi Ù· ÎÚÈÙ‹ÚÈ· (Û˘ÌÙÒÌ·Ù· ‹ ¯·Ú·ÎÙËÚÈÛÙÈο) ÂÓfi˜ ÂÚˆÙËÌ·ÙÔÏÔÁ›Ô˘ Ô˘ ÙÔ˘˜ ›¯Â ‰È·ÓÂÌËı›, ÛÙÔ ¶·ÓÂÈÛÙËÌÈ·Îfi ¡ÔÛÔÎÔÌÂ›Ô ∏Ú·ÎÏ›Ԣ, Ì ÙËÓ ˘Ô„›· ÂÓ‰ÔÁÂÓÔ‡˜ ÌÂÙ·‚ÔÏÈÎÔ‡ ÓÔÛ‹Ì·ÙÔ˜. ªÂÙ¿ ·fi ÂÍÂȉÈÎÂ˘Ì¤ÓÔ ÎÏÈÓÈÎfi, ÂÚÁ·ÛÙËÚÈ·Îfi Î·È ·ÂÈÎÔÓÈÛÙÈÎfi ¤ÏÂÁ¯Ô Û 17/112 ·ÛıÂÓ›˜ (15,2%) ÂȂ‚·ÈÒıËÎÂ Ë ‰È¿ÁÓˆÛË ÌÂÙ·‚ÔÏÈÎÔ‡ ÓÔÛ‹Ì·ÙÔ˜. ¢Âη٤ÛÛÂÚȘ ·fi ÙÔ˘˜ 17 ·ÛıÂÓ›˜ ‹Ù·Ó ·È‰È¿. ™ÙÔ˘˜ ·ÛıÂÓ›˜ ÂÊ·ÚÌfiÛÙËÎÂ, fiÔ˘ ‹Ù·Ó ‰˘Ó·Ùfi, Ë Î·Ù¿ÏÏËÏË ıÂڷ¢ÙÈ΋ ·ÓÙÈÌÂÙÒÈÛË, ÂÓÒ ÛÙÔ˘˜ ›‰ÈÔ˘˜ Î·È ÙȘ ÔÈÎÔÁ¤ÓÂȤ˜ ÙÔ˘˜ ·Ú·Û¯¤ıËΠοı ‰˘Ó·Ù‹ ÎÔÈÓˆÓÈÎÔÔÈÎÔÓÔÌÈ΋ ˘ÔÛÙ‹ÚÈÍË. ¶·Ú¿ÏÏËÏ·, ¤ÁÈÓ ÁÂÓÂÙÈ΋ ηıÔ‰‹ÁËÛË Î·È Û˘Ì‚Ô˘Ï¢ÙÈ΋ Ù˘ ÔÈÎÔÁ¤ÓÂÈ·˜ ÙˆÓ ·Û¯fiÓÙˆÓ. ∏ Û˘Ì‚ÔÏ‹ ÙˆÓ ÁÈ·ÙÚÒÓ Ù˘ ÚˆÙÔ‚¿ıÌÈ·˜ ÊÚÔÓÙ›‰·˜ ˘Á›·˜ ÛÙËÓ ¤ÁηÈÚË ‰È¿ÁÓˆÛË ÙˆÓ ÌÂÙ·‚ÔÏÈÎÒÓ ÓÔÛËÌ¿ÙˆÓ ÛÙ· ·È‰È¿ Ê·›ÓÂÙ·È Ó· Â›Ó·È ÛËÌ·ÓÙÈ΋, ηıfiÛÔÓ Ì ÙËÓ Î·Ù¿ÏÏËÏË Âη›‰Â˘ÛË Î·È
Abstract: Inherited metabolic disorders are often underdiagnosed. The aim of this pilot study is to present the main outcomes and the experience gained as a result of the cooperation between the medical staff of the primary health care system in the rural areas of Crete and the tertiary care doctors at the referral University Hospital of Heraklion, Crete. Medical staff working in 8 primary health care centers in rural Crete (pediatricians and general practitioners) referred 112 patients suspected for metabolic disease who fulfilled at least 1 criterion (symptom or sign) from a pre-constructed questionnaire. After detailed clinical and laboratory investigations 17 of 112 patients (15.2 %) were found to have an inherited metabolic disease. Fourteen of these patients were children. Where possible, these patients were provided with the appropriate treatment. Additionally, socio-economical support and genetic consultation was made available to all of them and their families. A high index of suspicion, proper training and supply of information to the primary health care physicians may contribute to the timely detection of patients with inherited metabolic diseases and the prevention and treatment of new cases.
1 ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, ¶ÂÚÈÊÂÚÂÈ·Îfi ¶·ÓÂÈÛÙËÌÈ·Îfi °ÂÓÈÎfi ¡ÔÛÔÎÔÌÂ›Ô ∏Ú·ÎÏ›Ԣ (¶∂¶∞°¡∏), ∫Ú‹ÙË 2 ¡Â˘ÚÔÏÔÁÈ΋ ∫ÏÈÓÈ΋, ¶∂¶∞°¡∏, ∫Ú‹ÙË 3 ∆Ô̤·˜ ∫ÔÈÓˆÓÈ΋˜ π·ÙÚÈ΋˜, ¶∂¶∞°¡∏, ∫Ú‹ÙË 4 ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, °ÂÓÈÎfi ¡ÔÛÔÎÔÌÂ›Ô Ã·Ó›ˆÓ, ∫Ú‹ÙË 5 ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, µÂÓÈ˙¤ÏÂÈÔ °ÂÓÈÎfi ¡ÔÛÔÎÔÌÂ›Ô ∏Ú·ÎÏ›Ԣ, ∫Ú‹ÙË 6 University Hospital Nigmegen, The Netherlands Department of Neurology and Pediatrics
1 Department of Pediatrics, Medical School, University of Heraklion, Crete 2 Department of Neurology, Medical School, University of Heraklion, Crete 3 Department of Public Health and Social Medicine, Medical School, University of Heraklion, Crete 4 Pediatric Clinic, General Hospital of Chania, Crete 5 Department of Pediatrics, Venizelio General Hospital of Heraklion, Crete 6 University Hospital Nigmegen, The Netherlands Department of Neurology and Pediatrics
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