ROHHAD (original) (raw)
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown. ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation along with hypothalamic dysfunction, which distinguishes ROHHAD from congenital central hypoventilation syndrome (CCHS). ROHHAD is a rare disease, with only 100 reported cases worldwide thus far.
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| dbo:abstract | Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown. ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation along with hypothalamic dysfunction, which distinguishes ROHHAD from congenital central hypoventilation syndrome (CCHS). ROHHAD is a rare disease, with only 100 reported cases worldwide thus far. The first sign of ROHHAD is a rapid weight gain between 1.5 and 11 years of age. Typically, hypoventilation, or abnormally slow breathing, presents after the rapid onset obesity. Symptoms of hypothalamic dysfunction and autonomic dysfunction present in a variety of ways, but in order for a diagnosis of ROHHAD they must be present in some form. Approximately 40% of patients will develop neuroendocrine tumors. There is also a possibility of behavioral disorders, but some children with ROHHAD have normal cognitive development and intelligence. Treatment plans for ROHHAD vary depending on each patient's symptoms. There is no cure, so treatment is geared toward managing the symptoms that each patient manifests. ROHHAD is fatal in 50-60% of cases when undiagnosed and untreated, due to cardiopulmonary arrest secondary to untreated hypoventilation. The earlier the disease is diagnosed and treatment starts, the better a child's prognosis is. (en) La ROHHAD, o sindrome ROHHAD, acronimo inglese per Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation, in italiano sindrome da obesità a esordio rapido-disfunzione ipotalamica-ipoventilazione-disregolazione autonomica, è una malattia molto rara con solo 75 casi riconosciuti in tutto il mondo. I pazienti con ROHHAD, così come i pazienti con sindrome da ipoventilazione centrale congenita (CCHS), accusano danni al meccanismo che regola la corretta respirazione, ma al contrario di loro i pazienti con la ROHHAD non presentano mutazioni nel gene PHOXB2. Le cause della ROHHAD sono ancora sconosciute ma nella maggior parte dei casi ci sono mutazioni di almeno uno dei seguenti geni: HTR1A, OTP, PACAP. I principali sintomi della ROHHAD sono: * obesità a insorgenza rapida, * ipoventilazione alveolare, * apnea ostruttiva da sonno, * riduzione dei livelli di ormoni della crescita, * alterata percezione del dolore, * alterata sudorazione, * incapacitá di sentire la sete oppure diabete insipido, * strabismo, * iperfagia, * ipersodiemia, * . Non esiste né cura né terapia per la sindrome ROHHAD. (it) Zespół ROHHAD (ang. Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood, ROHHAD syndrome) – rzadka choroba o przypuszczenie genetycznym podłożu. Obraz kliniczny zespołu przypomina zespół wrodzonej ośrodkowej hipowentylacji o późnym początku (LO-CCHS), jednak u pacjentów z ROHHAD nie udaje się wykryć mutacji w genie PHOX2B, odpowiedzialnej za objawy CCHS. Nazwę zespołu ROHHAD dla tej bardzo małej grupy pacjentów (opisano do tej pory około 30 przypadków) zaproponowali Diego Ize-Ludlow i wsp. w pracy opublikowanej w 2007 roku w Pediatrics. Chorzy z zespołem ROHHAD podobnie jak pacjenci z CCHS mają zaburzony mechanizm regulujący prawidłowe oddychanie. Zespół ROHHAD jest chorobą potencjalnie śmiertelną i nieuleczalną. (pl) Синдром ROHHAD (англ. Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation — Быстро развивающееся ожирение с дисфункцией гипоталамуса, гиповентиляцией и спонтанной дисрегуляцией) — крайне редкое заболевание, поразившее около 77 человек по всему миру. Представляет собой внезапное ожирение, вызванное дисфункцией гипоталамуса, гиповентиляцией легких и автономной дисрегуляцией. У больных ROHHAD, как и у больных с синдромом врожденной центральной гиповентиляцией поражается участок мозга, отвечающий за автономное дыхание (пациент перестает дышать — уровень CO2 в крови повышается, но он не чувствует этого: не начинает задыхаться, не чувствует недомогания). Синдром ROHHAD является неизлечимым и потенциально смертельным. (Diego Ize-Ludlow) в своей работе 2007 года рассматривает 15 пациентов с синдромом ROHHAD. (ru) |
| dbo:symptom | dbr:Hypoventilation |
| dbo:thumbnail | wiki-commons:Special:FilePath/Haven_ROHHAD.jpg?width=300 |
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| dbp:caption | A photograph of a child who has been diagnosed with ROHHAD (en) |
| dbp:causes | unknown (en) |
| dbp:frequency | 158 (xsd:integer) |
| dbp:name | ROHHAD (en) |
| dbp:onset | -3.471336E8 |
| dbp:prognosis | Life Limiting (en) |
| dbp:symptoms | rapid onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysfunction, neuroendocrine tumors, behavior problems (en) |
| dbp:synonyms | ROHHADNET (en) |
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| dcterms:subject | dbc:Endocrine_diseases dbc:Idiopathic_diseases dbc:Rare_diseases |
| rdf:type | owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Content105809192 yago:Idea105833840 yago:PsychologicalFeature100023100 dbo:Disease yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes |
| rdfs:comment | Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown. ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation along with hypothalamic dysfunction, which distinguishes ROHHAD from congenital central hypoventilation syndrome (CCHS). ROHHAD is a rare disease, with only 100 reported cases worldwide thus far. (en) La ROHHAD, o sindrome ROHHAD, acronimo inglese per Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation, in italiano sindrome da obesità a esordio rapido-disfunzione ipotalamica-ipoventilazione-disregolazione autonomica, è una malattia molto rara con solo 75 casi riconosciuti in tutto il mondo. I pazienti con ROHHAD, così come i pazienti con sindrome da ipoventilazione centrale congenita (CCHS), accusano danni al meccanismo che regola la corretta respirazione, ma al contrario di loro i pazienti con la ROHHAD non presentano mutazioni nel gene PHOXB2. (it) Zespół ROHHAD (ang. Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood, ROHHAD syndrome) – rzadka choroba o przypuszczenie genetycznym podłożu. Obraz kliniczny zespołu przypomina zespół wrodzonej ośrodkowej hipowentylacji o późnym początku (LO-CCHS), jednak u pacjentów z ROHHAD nie udaje się wykryć mutacji w genie PHOX2B, odpowiedzialnej za objawy CCHS. Nazwę zespołu ROHHAD dla tej bardzo małej grupy pacjentów (opisano do tej pory około 30 przypadków) zaproponowali Diego Ize-Ludlow i wsp. w pracy opublikowanej w 2007 roku w Pediatrics. (pl) Синдром ROHHAD (англ. Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation — Быстро развивающееся ожирение с дисфункцией гипоталамуса, гиповентиляцией и спонтанной дисрегуляцией) — крайне редкое заболевание, поразившее около 77 человек по всему миру. Представляет собой внезапное ожирение, вызванное дисфункцией гипоталамуса, гиповентиляцией легких и автономной дисрегуляцией. (ru) |
| rdfs:label | ROHHAD (it) Zespół ROHHAD (pl) ROHHAD (en) Синдром ROHHAD (ru) |
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| prov:wasDerivedFrom | wikipedia-en:ROHHAD?oldid=1105094938&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Haven_ROHHAD.jpg |
| foaf:isPrimaryTopicOf | wikipedia-en:ROHHAD |
| foaf:name | ROHHAD (en) |
| is dbo:wikiPageRedirects of | dbr:Rohhad |
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| is foaf:primaryTopic of | wikipedia-en:ROHHAD |
