Maʻi Gaucher

ʻO ka maʻi Gaucher kahi maʻi maʻi ʻōiwi maʻamau kahi i nele kahi kanaka i kahi enzyme i kapa ʻia ʻo glucocerebrosidase (GBA).

ʻAʻohe loa ka maʻi Gaucher i ka heluna lehulehu. ʻO ka poʻe o ka Hikina a me ka ʻEulopa ʻEulopa (Ashkenazi) ka hoʻoilina o nā Iudaio e loaʻa pinepine i kēia maʻi.

He maʻi recessive autosomal ia. ʻO ke kumu o ia mea pono i ka makuahine a me ka makuakāne ke hāʻawi i hoʻokahi kope ʻē aʻe o ka ʻāpana maʻi i kā lākou keiki i mea e ulu ai ka maʻi i ka maʻi. ʻO kahi makua e hāpai ana i kahi kope kūpono ʻole o ka ʻāpana akā ʻaʻole i loaʻa ka maʻi i kapa ʻia he lawe hāmau.

ʻO ka nele o ka GBA ke kumu o nā mea ʻino e kūkulu i loko o ke akepaʻa, nā iwi maha, nā iwi, a me nā iwi o ka iwi. Pale kēia mau mea i nā hunaola a me nā ʻokena mai ka hana kūpono ʻana.

ʻEkolu mau subtypes nui o ka maʻi Gaucher:

• ʻO ka ʻano 1 ka mea maʻamau. Pili ia i ka maʻi iwi, anemia, kahi ākea ākea a me nā platelet liʻiliʻi (thrombositopenia). ʻAno 1 i nā keiki a me nā mākua. ʻO ka mea maʻamau i ka heluna Iudaio Ashkenazi.
• Hoʻomaka ka hoʻomaka ʻana o ʻAno 2 i ka wā kamaliʻi me ke komo nui ʻana o ka neurologic. Hiki i kēia palapala ke alakaʻi i ka make wikiwiki.
• Hiki i ke ʻano 3 ke kumu o nā pilikia o ke ake, ka pākī, a me ka lolo. Noho ka poʻe me kēia ʻano i ka wā makua.

ʻO ke kahe ʻana ma ka helu o ka platelet haʻahaʻa ka hōʻailona maʻamau i ʻike ʻia ma ka maʻi Gaucher. Hiki i nā ʻōuli ʻē aʻe ke:

• ʻEha iwi a me nā haʻi
• Ka hoʻohaʻahaʻa ʻike ʻana (hoʻoliʻiliʻi noʻonoʻo hiki)
• ʻĀpiki maʻalahi
• ʻLepala hoʻonui
• Ake akea
• Ka luhi
• Nā pilikia o ka puʻuwai puʻuwai
• Lung maʻi (laha ʻole)
• Ka hopu ʻana i nā maʻi
• ʻŌhū nui i ka wā hānau
• Hoʻololi ka ʻili

E hana ka mea mālama ola i kahi hoʻokolohua kino a nīnau e pili ana i nā ʻōuli.

E hana ʻia paha kēia mau hoʻāʻo:

• Hōʻaʻo koko e nānā no ka hana enzyme
• ʻIʻini iwi iwi
• ʻO Biopsy o ka lola
• MRI
• CT
• X-kukuna o ka iwi iwi
• Ke hoʻāʻo genetic

ʻAʻole hiki ke hoʻōla ʻia ka maʻi Gaucher. Akā hiki i nā mālama ke kōkua i ke kaohi a hoʻomaikaʻi paha i nā ʻōuli.

Hāʻawi ʻia nā lāʻau i:

• Hoʻololi i ka nalo ʻana o GBA (ka hoʻowalewale hoʻōla enzyme) e kōkua i ka hoʻēmi ʻana i ka nui o ka spleen, ka ʻeha o ka iwi, a me ka hoʻomaikaʻi ʻana i ka thrombositopenia.
• Ka palena o ka hana ʻana o nā kemika momona e kūkulu i loko o ke kino.

ʻO nā ʻano lāʻau ʻē aʻe kekahi:

• Nā lāʻau no ka ʻeha
• ʻOki kino no ka iwi a me nā pilikia hui, a i ʻole e hemo i ka iwi maha
• Hoʻokahe koko

Hiki i kēia mau pūʻulu ke hāʻawi i ka ʻike hou aku e pili ana i ka maʻi Gaucher:

• Pūnaewele Gaucher National - www.gaucherdisease.org
• National Library of Medicine, Genetics Home Reference - ghr.nlm.nih.gov/condition/gaucher-disease
• National Organization for Rare Diseases - rarediseases.org/rare-diseases/gaucher-disease

Ma ke ʻano o ka hilinaʻi ʻana o ke kanaka i kā lākou ʻano subtype o ka maʻi. ʻO ke ʻano kamaliʻi o ka maʻi Gaucher (ʻAno 2) hiki ke alakaʻi i ka make mua. ʻO nā keiki i hoʻopilikia ʻia e make ma mua o ka makahiki 5.

Hiki i nā mākua me ka ʻano 1 o ka maʻi Gaucher ke kali i ke ola maʻamau me ka hoʻōla hou ʻana i ka enzyme.

Komo pū nā pilikia o ka maʻi Gaucher:

• Ka hopu ʻana i nā maʻi
• Anemia
• Thrombositopenia
• Nā pilikia iwi

Paipai ʻia ka ʻōlelo aʻo genetic no nā mākua e hiki mai ana me ka moʻolelo ʻohana o ka maʻi Gaucher. Hiki i ka hoʻāʻo ke hoʻoholo inā lawe nā mākua i ka ʻāpana i hiki ke hala i ka maʻi Gaucher. Hiki i kahi hōʻoia prenatal ke haʻi aku inā he pēpē i loko o ka ʻōpū i loaʻa iā Gaucher maʻi maʻi.

Ka nele o Glucocerebrosidase; Ka nele o Glucosylceramidase; ʻO ka maʻi mālama Lysosomal - Gaucher

• ʻIʻini iwi iwi
• Pūnaewele Gaucher - photomicrograph
• Pūnaewele Gaucher - photomicrograph # 2
• Hepatosplenomegaly

ʻO Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nā kīnā i ka metabolism o lipids. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 104.

Krasnewich DM, Sidransky E. Nā maʻi mālama Lysosomal. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 197.

Turnpenny PD, Ellard S, Cleaver R. Inborn hewa o ka metabolism. I: Turnpenny PD, Ellard S, Cleaver R, eds. Nā Emehana o Emery o nā Genetics Lapaʻau a me nā Genomics. 16th ed. Piladelapia, PA: Elsevier; 2022: chap 18.