Penyakit langka mendera Rory, bantuanmu akan sangat berharga untuknya!

Rory A

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Raut wajah pilu Rory tak terelakkan. Ia merasakan sakit yang luar biasa di usianya yang masih balita.

"Sejak anak kami berusia 1 bulan matanya kuning karena bilirubin tinggi. BAB-nya warna dempul dan perutnya mengeras", ibunda Rory mulai bercerita. "Lalu kami periksa ke RS hasil dan lab-nya menunjukkan bilirubin masih tingi. Tim dokter rumah sakit merujuk anak kami ke RSCM karena harus melakukan biopsi dan hasilnya Rory divonis Alagille syndrome (kelainan hati) sampai harus transplantasi", ucapnya dengan nada sedih.

Sindrom Alagille adalah sindrom genetik yang dapat mempengaruhi hati dan bagian tubuh lainnya. Masalah-masalah hati yang dialami penderita adalah akibat dari lebih sedikitnya jumlah saluran empedu kecil dibanding hati yang normal. Hal ini menyebabkan penumpukan empedu di dalam hati, yang pada akhirnya dapat menyebabkan jaringan parut dan kerusakan hati.

"Sekarang Rory perlu tes genetik yang akan dikirim ke Jerman untuk pemeriksaan lebih lanjut. Kata dokter kondisinya juga harus dalam keadaan gizi baik, jadi perlu susu yang bergizi tinggi", tutur sang Ibunda. Ayah Rory adalah seorang pekerja teknisi yang penghasilannya sebatas UMR, namun keperluan pengobatan Rory begitu tinggi. "Semoga ada jalan untuk kebutuhan berobat anak saya" - Mama Rory.

Mari bantu Rory berjuang hadapi penyakitnya!




Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver. This leads to bile building-up inside the liver, which in turn causes liver scarring and damage. Signs and symptoms of Alagille syndrome are generally noticed in infancy or early childhood. Type of symptoms and severity varies greatly, even among people in the same family, so that in some cases the symptoms are severe, and in others, very mild. The liver problems may be the first symptoms of the syndrome, and may include yellow color of the skin and whites of the eyes (jaundice); itchy skin; bumps on the skin caused by deposits of cholesterol and fats (xanthomas); pale, loose bowel movements; and poor growth. Alagille syndrome can also affect other parts of the body including the heart, brain, kidneys, blood vessels, eyes, face, and skeleton. People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin.

Alagille syndrome is caused by changes or mutations in the JAG1 and NOTCH2 genes. Inheritance is autosomal dominant. However, in about half of cases the mutation occurs as a new change ("de novo") without being inherited from either parents. While there is no known cure for Alagille syndrome, there are treatments that can help control symptoms. Possible treatments may include medication that increases the flow of bile and careful management of diet to minimize nutrition and vitamin related problems. In severe cases, a liver transplant may be necessary.

Symptoms Alagille syndrome is a complex multisystem disease involving the liver, brain, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood. The severity of the syndrome varies greatly, even within the same family. Symptoms range from so mild as to go unnoticed to severe enough to require heart and/or liver transplants. Symptoms may include: * Liver problems: One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile, which helps to digest fats, from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. This results in a build-up of bile causing scarring that prevents the liver from working properly. This may lead to jaundice, itchy skin, and deposits of cholesterol in the skin (xanthomas). * Nutrition problems: Since bile is important for the digestion and absorption of fat and fat-soluble vitamins, people with Alagille syndrome may have a hard time getting enough calories and may develop Vitamin A, D, E and/or K deficiencies. Calcium and zinc deficiencies may also be associated with Alagille syndrome. Many people with Alagille syndrome continue to have nutrition problems even after a liver transplant, suggesting that other factors of the syndrome may play a role. Malnutrition can lead to slow growth, delayed puberty and other health concerns. * Heart problems: Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Other associated heart-related problems include a hole between the two lower chambers of the heart (ventricular septal defect) and a combination of heart defects called tetralogy of Fallot. * Distinctive facial features: People with Alagille syndrome may have distinctive facial features, such as a broad, prominent forehead; deep-set eyes; and a small, pointed chin. * Neurologic problems: Some people with Alagille syndrome may have intellectual disabilities and developmental delay. * Vascular problems: Alagille syndrome can be associated with abnormalities of the blood vessels in the head and neck, which can lead to spontaneous or injury-induced bleeding in the skull or brain, or a stroke. Alagille syndrome can also cause narrowing (stenosis) or bulging (aneurysm) of other blood vessels in the body. * Kidney problems: Some children may have impaired kidney function such as kidney artery stenosis, lipoid nephrosis, or glomerulosclerosis. * Bone problems: People may have an unusual butterfly shape of the bones of the spinal column (vertebrae) but this shape almost never causes any problems with the function of the nerves in the spinal cord. However, Vitamin D deficiency can lead to rickets or weakened bones and poor growth. Calcium deficiency and other features of Alagille syndrome can also lead to poor growth, abnormally shaped bones, and increased risk of broken bones.
* Eye problems: Eye abnormalities are common in Alagille syndrome, but for the most part do not require treatment and do not cause vision loss. The most common eye finding is an extra, circular line on the surface of the eye, called a posterior embryotoxon, that can be detected during a specialized eye examination. Although about 90% of people with Alagille syndrome have this eye finding, so do up to 15% of people who do not have this syndrome. Other eye findings may include Axenfeld anomaly, in which strands of the colored part of the eye (iris) are abnormally attached to the cornea, and color changes of the retina (retinal pigmentary changes). * Pancreatic insufficiency: Alagille syndrome can cause pancreatic insufficiency. People whose pancreas does not produce enough enzymes to help digest food do not properly absorb fat from food (fat malabsorption) and excrete fat in their bowel movements. Pancreatic insufficiency can cause poor nutrition and growth and therefore is believed to play a larger role than first suspected in the nutritional problems for people with Alagille syndrome.


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06 September 2019
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