Sindrom Digeorge (Sindrom Delesi 22q11.2)

Sindrom DiGeorge, uga dikenal minangka sindrom deleksi 22q11.2, yaiku kondisi sing disebabake nalika bagean cilik kromosom 22 ilang. Penghapusan iki nyebabake sawetara sistem awak kurang berkembang.

Istilah sindrom deleksi 22q11.2 kalebu istilah-istilah sing biyen dianggep minangka kondisi sing beda. Istilah kasebut kalebu sindrom DiGeorge, sindrom velocardiofacial (vel-oh-cahr-dee-oh-fay-shell) lan kondisi liyane sing disebabake bagean kromosom 22 sing padha ilang. Nanging, ciri-cirine bisa rada beda.

Masalah medis sing kerep ana gandhengane karo sindrom deleksi 22q11.2 kalebu masalah jantung, kekebalan sing kurang, langit-langit mulut sumbing, komplikasi saka tingkat kalsium sing kurang, macem-macem masalah mripat lan kelainan autoimun. Komplikasi uga kalebu gangguan pendengaran, beda kerangka, beda ginjel lan alat kelamin, lan perkembangan sing telat kanthi masalah prilaku lan emosi.

Jumlah lan kabeh gejala sing ana gandhengane karo sindrom deleksi 22q11.2 beda-beda. Nanging, spesialis ing macem-macem lapangan kudu nambani meh kabeh wong sing kena sindrom iki.

Gejala Sindrom DiGeorge bisa beda-beda gumantung sistem awak endi sing kena lan parahé masalah mau. Sawetara gejala bisa langsung katon nalika lair, nanging sawetara liyané bisa uga ora katon nganti luwih suwé nalika bayi utawa bocah cilik, utawa nalika wis diwasa.

Gejala Sindrom DiGeorge bisa kalebu:

• Masalah jantung, kayata masalah struktur jantung lan pembuluh darah, utawa desis jantung lan kulit kebiruan amarga sirkulasi getih sing ora apik, uga dikenal minangka sianosis.
• Infeksi sing kerep.
• Ciri rai sing khas, kayata dagu sing kurang berkembang, kuping sing katon béda, mripat sing adoh, mripat sing katutup, lan ujung irung sing gedhé. Wajah nangis asimetris uga bisa ana. Iki nalika otot ing salah siji sisih cangkem ora berkembang kanthi lengkap, nyebabake sisih cangkem mau kendur nalika nangis, sanajan rai katon imbang nalika ora nangis.
• Celah ing langit-langit cangkem, uga dikenal minangka langit-langit sumbing, utawa masalah liyané ing langit-langit.
• Kesulitan mangan, gagal nambah bobot utawa masalah weteng.
• Kehilangan pendengaran.
• Tonus otot sing kurang.
• Masalah ginjel.
• Penglihatan sing kurang lan masalah mripat liyané.
• Kadar kalsium ing getih sing kurang.
• Skoliosis.

Gejala liyané bisa kalebu:

• Pertumbuhan sing telat.
• Perkembangan sing telat, kayata telat muter, lungguh utawa tonggak bayi liyané.
• Perkembangan wicara sing telat utawa wicara sing muni kaya irung.
• Telat sinau utawa cacat sinau.
• Masalah prilaku.

Kahanan liyané bisa nyebabake gejala kaya sindrom deleksi 22q11.2. Penting kanggo entuk diagnosis sing bener kanthi cepet yen anake nuduhake gejala sing kasebut ing ndhuwur.

Profesional kesehatan bisa curiga sindrom deleksi 22q11.2:

• Nalika lair. Yen masalah jantung sing abot, langit-langit sumbing utawa tandha-tandha liyané sing khas saka sindrom deleksi 22q11.2 cetha nalika lair, tes kasebut bakal ditindakake sadurunge anake metu saka rumah sakit.
• Nalika kunjungan bayi sehat. Penyakit utawa kahanan sing khas saka sindrom deleksi 22q11.2 bisa uga cetha sajrone wektu. Profesional kesehatan anake bisa ndeleng masalah sajrone kunjungan bayi sehat sing direncanakake utawa pemeriksaan rutin saben taun.

Sabên wong duwé loro salinan kromosom 22 — siji turunan saka saben wong tuwa. Yen wong duwé sindrom DiGeorge, siji salinan kromosom 22 ora duwé segmen sing kalebu kira-kira 30 nganti 40 gen. Akeh gen kasebut durung diidentifikasi kanthi cetha lan durung dimangerteni kanthi apik. Wilayah kromosom 22 sing dibusak dikenal minangka 22q11.2.

Penghapusan gen saka kromosom 22 biasane kedadeyan minangka kedadeyan acak ing sperma bapak utawa ing endhog ibu. Utawa bisa uga kedadeyan awal nalika bayi lagi berkembang. Jarang, penghapusan kasebut ditularake menyang anak saka wong tuwa sing uga duwé penghapusan ing kromosom 22 nanging bisa uga duwé gejala sing kurang utawa entheng.

Bayi sing ora duwe sebagéyan kromosom 22, kanthi spesifik wilayah sing dikenal minangka 22q11.2, paling beresiko kena sindrom DiGeorge. Sebagéyan sing ora ana iki nyebabake sawetara sistem awak kurang berkembang.

Birth Defects and 22q11.2 Deletion Syndrome

Several birth defects can affect a baby's health, and some of these are connected to genetic conditions like 22q11.2 deletion syndrome. This syndrome happens when a small part of chromosome 22 is missing. This missing piece can cause problems in different parts of the body.

Heart Problems:

Babies with 22q11.2 deletion syndrome often have heart defects. These problems affect how blood flows through the heart. A few examples include:

• Ventricular Septal Defect (VSD): This is a hole in the wall between the heart's lower chambers (ventricles). This allows oxygen-rich blood to flow back to the lungs instead of going to the rest of the body.
• Truncus Arteriosus: Instead of two separate blood vessels leaving the heart, there's only one large vessel. This mixes oxygen-rich blood (red) with oxygen-poor blood (blue), creating a purple mixture with insufficient oxygen for the body.
• Tetralogy of Fallot: This is a combination of four heart defects. One of these is a VSD, a hole between the heart's lower chambers. There's also a narrowing in the blood vessel leading to the lungs (pulmonary stenosis), a misplaced main artery (aorta), and a thickened wall in the lower right heart chamber (right ventricular hypertrophy). These changes affect how blood flows through the heart and to the rest of the body.

Other Issues Related to 22q11.2 Deletion Syndrome:

• Hypoparathyroidism: The parathyroid glands, located near the thyroid gland in the neck, are responsible for regulating calcium and phosphorus levels in the body. In 22q11.2 deletion syndrome, the parathyroid glands may be smaller than normal and not produce enough of the hormone that controls these minerals. This can lead to abnormally low calcium and high phosphorus in the blood.

• Thymus Gland Dysfunction: The thymus is a gland beneath the breastbone where a type of white blood cell called T cells mature. T cells are crucial for fighting infections. In 22q11.2 deletion syndrome, the thymus might be smaller or missing, which can weaken the immune system, making the person more susceptible to infections.

• Cleft Palate: A cleft palate is a split or opening in the roof of the mouth. This happens when the tissues don't completely fuse during development in the womb. Sometimes a cleft lip (split upper lip) is also present. This can cause difficulty with eating, speaking, and proper development.

• Facial Features: Some people with 22q11.2 deletion syndrome have noticeable facial features, including small, low-set ears; a small eye opening; hooded eyes; a long face; an enlarged nose tip; or a short or flattened groove in the upper lip.

• Autoimmune Conditions: People with 22q11.2 deletion syndrome may have a higher risk of developing autoimmune diseases, such as rheumatoid arthritis or Graves' disease, where the body's immune system attacks its own tissues.

• Other Problems: This syndrome can also be associated with other health issues like hearing problems, vision problems, and kidney difficulties.

It's important to note that not everyone with 22q11.2 deletion syndrome will experience all of these problems, and the severity of the symptoms can vary greatly. A healthcare professional can diagnose and manage the specific issues in each individual.

Ing sawetara kasus, wong tuwa sing kena pengaruh bisa ngirim Sindrom DiGeorge menyang anak. Yen sampeyan kuwatir babagan riwayat kulawarga sindrom penghapusan 22q11.2 utawa yen sampeyan wis duwe anak kanthi sindrom kasebut, sampeyan bisa uga pengin ndeleng dokter sing spesialis ing kondisi genetik. Dokter iki diarani ahli genetika. Utawa sampeyan bisa uga pengin ndeleng konselor genetik kanggo mbantu rencana meteng ing mangsa ngarep.

Diagnosa Sindrom DiGeorge (sindrom delesi 22q11.2) utamane adhedhasar tes laboratorium kang bisa ndeteksi delesi ing kromosom 22. Profesional kesehatan anak sampeyan kemungkinan bakal nindakake tes iki yen anak sampeyan duwe:

• Campuran masalah utawa kondisi medis sing nuduhake sindrom delesi 22q11.2.
• Masalah jantung amarga sawetara masalah jantung biasane ana hubungane karo sindrom delesi 22q11.2.

Ing sawetara kasus, anak bisa uga duwe campuran kondisi sing nuduhake sindrom delesi 22q11.2, nanging tes laboratorium ora nuduhake bagean kromosom 22 sing ilang.

Sanadyan ora ana obat kanggo sindrom DiGeorge (sindrom deleksi 22q11.2), perawatan biasane bisa ngatasi masalah-masalah kritis, kayata masalah jantung utawa langit-langit mulut sumbing. Masalah kesehatan liyane, uga masalah perkembangan, kesehatan mental utawa prilaku, bisa ditangani utawa diawasi miturut kabutuhan.

Perawatan lan terapi kanggo sindrom deleksi 22q11.2 bisa kalebu perawatan kanggo:

• Hipoparatiroidisme. Njupuk suplemen kalsium lan vitamin D miturut petunjuk saka profesional kesehatan sampeyan asring bisa ngatur hipoparatiroidisme. Ing sawetara kasus, suplemen liyane uga bisa disaranake.
• Masalah jantung. Umume masalah jantung sing ana gandhengane karo sindrom deleksi 22q11.2 mbutuhake operasi sanalika sawise lair kanggo ndandani jantung lan nggawe pasokan getih sugih oksigen luwih apik.
• Fungsi kelenjar timus winates. Yen anak sampeyan duwe sawetara fungsi timus, infeksi bisa kerep nanging ora kudu abot. Infeksi iki - biasane flu lan infeksi kuping - umume diobati kaya ing bocah liyane. Umume bocah kanthi fungsi timus winates ngetutake jadwal vaksinasi sing biasa. Fungsi sistem imun saya apik karo umur kanggo umume bocah sing timus wis rusak sedheng.
• Disfungsi timus abot. Yen karusakan ing timus abot utawa ora ana timus, anak sampeyan ana ing risiko sawetara infeksi abot. Perawatan bisa mbutuhake transplantasi jaringan timus lan sel khusus saka sumsum balung utawa sel getih pejuang penyakit khusus.
• Langit-langit mulut sumbing. Langit-langit mulut sumbing utawa fitur langit-langit lan lambe sing ora biasa biasane bisa didandani kanthi operasi.
• Perkembangan sakabèhé. Anak sampeyan kamungkinan bakal entuk manfaat saka macem-macem terapi, kalebu terapi wicara, terapi okupasi lan terapi perkembangan. Ing AS, program intervensi awal sing nyedhiyakake jinis terapi iki biasane kasedhiya liwat departemen kesehatan negara utawa kabupaten.
• Manajemen kahanan liyane. Kahanan iki bisa kalebu masalah panganan lan tuwuh, masalah pendengaran utawa penglihatan, lan kahanan medis liyane.

Amarga sindrom deleksi 22q11.2 bisa nyebabake akeh masalah, sawetara spesialis kamungkinan bakal mbantu diagnosa kahanan tartamtu, nyaranake perawatan lan nyedhiyakake perawatan. Tim iki bakal owah nalika kabutuhan anak sampeyan owah.

Spesialis ing tim perawatan anak sampeyan bisa kalebu profesional iki lan liyane, miturut kabutuhan:

• Spesialis kesehatan bocah, uga dikenal minangka dokter anak.
• Ahli ing kahanan turunan, uga dikenal minangka ahli genetika.
• Spesialis jantung, uga dikenal minangka ahli jantung.
• Spesialis sistem imun, uga dikenal minangka ahli imunologi.
• Spesialis kuping, irung lan tenggorokan, uga diarani ENT.
• Spesialis penyakit infeksi.
• Spesialis kahanan hormon, uga dikenal minangka ahli endokrinologi.
• Ahli bedah sing khusus ndandani kahanan kayata langit-langit mulut sumbing, uga dikenal minangka ahli bedah oral lan maksilofasial.
• Ahli bedah sing khusus ndandani masalah jantung, uga dikenal minangka ahli bedah kardiovaskular.
• Terapis okupasi kanggo mbangun katrampilan praktis saben dina.
• Terapis wicara kanggo nambah kemampuan kanggo ngomong.
• Terapis perkembangan kanggo ngembangake prilaku lan katrampilan sosial sing cocog karo umur.
• Profesional kesehatan mental, kayata psikiater utawa psikolog anak.

Duwe anak kanthi sindrom DiGeorge (sindrom deleksi 22q11.2) iku angel. Sampeyan bisa uga ngatasi macem-macem masalah kesehatan lan perawatan. Kanggo mbantu nyukupi kabutuhan anak lan sampeyan dhewe, takon tim kesehatan babagan organisasi sing nyedhiyakake materi pendidikan, grup dhukungan lan sumber daya liyane kanggo wong tuwa anak kanthi sindrom deleksi 22q11.2.