Hurler si syndrome: akpatara, Ọgwụgwọ na Foto dị na

Mucopolysaccharidosis - nkịtị aha nke a ọnụ ọgụgụ nke obere ọrịa na-mkpụrụ ndụ ihe nketa na mbido. Pathology amalite n'ihi enweghị ke idem ụfọdụ enzymes na enyere gbarie abụba na carbohydrates n'ime mfe ụmụ irighiri. Isiokwu a tụlere mucopolysaccharidosis pịnye 1 - Hurler syndrome.

ihe

The ọrịa a na-ketara na autosomal recessive n'ụzọ. Ọ na-amalite n'ihi anomalies nke mucopolysaccharides mgbanwe.

pathogenesis

Mucopolysaccharidosis akọ na-akpọ lysosomal nchekwa ọrịa. Dị ka a n'ihi nke erughi nke lysosomal enzymes siri catabolism nke glycosaminoglycans. Ha akpọkọtara na nsụkọrọ na akụkụ, na-akpaghasị ahu na ya na usoro. Ke akpa itie, e bụ ọkpụkpụ nke meriri na-egbu oge ahụ development.

Mpụga mgbaàmà

Mgbaàmà nke ọrịa na-egosipụta ụdị nke ọkpụkpụ ntụpọ, connective, cartilaginous arọ. The isi mma - ibu iberibe. Nke a mgbaàmà nwere ike achọpụtara tupu ndị ọzọ, na-emekarị site na njedebe nke afọ mbụ nke ndụ, ọ na-aghọ doro anya na nwa ahụ na stunted.

Mucopolysaccharidosis dịkwa ike iche, ebe Ntụ ihu. Na ọrịa na nnukwu ire, gipertelozirm (ukwuu anya n'etiti paired akụkụ, na nke a n'etiti anya), oruru ntị, ọkpọiso overhangs, curved ezé.

Mgbaàmà-agụnye mucopolysaccharidosis ǹgụ deformation, owụt kyphosis nke thoracolumbar spain. Na-eduzi x-ụzarị nwere ike achọpụtara akaghi osifikeshịọn occipito-parietal agịga osifikeshịọn ọrịa enweghị nuclei.

N'ọnọdụ ka ukwuu, ọrịa na-esonyere mmachi agagharị nke nkwonkwo, abdominal hernias, hepatosplenomegaly (ịmụba ọnụ ọgụgụ nke na imeju na-splin n'ihi enweghị nchịkwa Filiks na-erukwa na dị ka a N'ihi nke ọrịa).

Na akụkụ nke Neurology akara moto iberibe na hypotonia. Ọzọkwa, mgbe e a-agwụ ike nke mucopolysaccharidosis ikpe na a ọnụ nke ọgụgụ isi ruo mgbe oké mgbaka. N'ihi esịtidem akụkụ-aga n'ihu systemic skeletal ọnya nwekwara doro enwe nsogbu dịgasị iche.

ụdị mucopolysaccharidosis

E nwere ọtụtụ ụdị ọrịa dị iche ogo nke ọkpụkpụ mgbanwe na ọrịa nke psyche:

• M - Hurler syndrome.
• II - Gunter syndrome (Hunter).
• III - Sanfilippo syndrome.
• IV - Morquio ọrịa.
• VI - Maroto syndrome - Lamy.
• VII - sli syndrome.

Nkewa na ahụ ike na-eme nke mba dị iche iche nwere ike iche na. Na ụdị V-emekarị dịpụrụ adịpụ Scheie syndrome. The American obodo bụ na-arịa ọrịa mukopolisaridozami kewara ekewa site ogo mgbaàmà nke mbụ ụdị, na e nwere atọ phenotypes: Hurler syndrome, Scheie syndrome, na márá n'etiti Hurler syndrome - Sheye (gụnyere Hurler hardest, Sheye - kacha).

Hurler syndrome

Nke a na ụdị na-adị ndị ọzọ ọtụtụ ugboro karịa ndị ọzọ, ma e kwuru na mbụ ọrịamkpokọta ndị ọzọ. Ke adianade do, na-adakarị foto nke kasị yi na-ahụkarị nke niile ụdị mucopolysaccharidosis.

Hurler si syndrome e mere site ihe autosomal recessive nketa. Nke a na ụdị ọrịa e ji a nnọọ ọganihu dị ngwa. N'agbanyeghị eziokwu na nke mbụ ụdị yiri nke abụọ mucopolysaccharidosis (Gunther, ma ọ bụ Hunter), bụ a mgbagwoju ọrịa. N'ihi na oge mbụ a n'ụdị a kọwara ke 1919 site na Gertrud Hurler (ya mere ziri ezi aha - Hurler syndrome, Hurler bụghị). The ugboro ole nke omume - onye ikpe nke 20-25 puku ndị mmadụ, na ọtụtụ ikpe nne na nna nke na-emetụta nwa na-metụtara site ọbara. Ya mere ọ bụrụ na ị na-chọpụtara na "Hurler syndrome", ihe mere mkpa ka anya na mkpụrụ ndụ ihe nketa larịị. Mgbaàmà-egosi fọrọ nke nta ozugbo mgbe amuchara nwa, na abụọ afọ adakarị picture ama n'ụzọ zuru ezu kwuru.

Hurler si syndrome - a classic ngosipụta nke ọrịa. Dị ka ọrịa slows ala ibu, gosiri ihe yiri opacity nke cornea, gọzie gị ọbara arịa nile. Na ụdị ọrịa na X-ray nwere ike achọpụtara mgbasa sella, shortening na ndọtị nke ogologo ọkpụkpụ, vertebral hypoplasia, na sharpness nke lumbar mpaghara (na-akpọ azụ vertebrae), na vertebral kọlụm deformation (ọrịa na-ata ahụhụ thoracolumbar spain kyphosis na lordosis). Malite daa ọrịa nke obi usoro - clogged akwara akwara ịdị iche iche valves, myocardium, endocardium, obi na-etolite size.

Omume hydrocephalus, ihe kpatara nke a bụ ego nke mucopolysaccharides na meninges. Kọwaa foci nke demyelination. Mucopolysaccharides nwekwara edebe ke imeju, splin, gbasara akụrụ tubular epithelium; retina, sclera, cornea anya; akwara sel, cartilage.

Na a mụrụ ụmụaka a ji mara n'ile - ha nwere nnọọ peculiar, Ntụ ihu, nke mere na aha ọzọ mukopolisaharoidozov - gargoilizm (site na okwu "gargoyle" - a mma ọgụgụ na pụrụ iche ihu), tinyere ndị na-akpọ, na Hurler syndrome. Photos, nke na-egosi na ọrịa na o doro anya na ihe atụ nke aru distortion nke ihu nwa. Ụmụ ndị a gbanwere okpokoro isi - ọ na-ewe ndị udi nke keel nke ụgbọ mmiri, e nwere a na-akpọ scaphocephaly, aba ime imi, oké egbugbere ọnụ, nnukwu ire, nkpoda ọkpọiso, obere olu na a ji mara ọdịdị ihu. Atugharị, ọ n'ezie anya dị ka ụzọ-egosi akụkọ ifo Gargoyles.

Ọzọkwa, ha shortened obi, na ala ọgịrịga protrude, e nwere ihe ịrịba ama nke kyphosis, nkwonkwo (karịsịa mkpịsị aka na elbows) bụ adịghị ejekwa ozi, nwere ike inguinal na alọ hainia. Mbọ ike inweta ụdị nche iko, ntutu na-aghọ ike na akọrọ, olu - ala na husky. Chance nke na-anụ na ọnwụ ma ọ bụ ọbụna ntị ochichi. Ọrịa na-ata ahụhụ site na nha nha ire ere, nke na-akpata Hurler syndrome.

Mgbaàmà gụnyere ọrịa na nke akụkụ okuku ume na usoro, n'ihi na nwa ọhụrụ a na na-na-eku ume site n'ọnụ, ọ pụtara n'ihu adenoids, ọ bụ ewekarị malitere ịrịa nje. N'ime oge ahụ, ọ na-mepụtara e ji mara nke Mucopolysaccharidosis nsogbu na imeju na-na splin (n'ihi na ụba afo), mgbaka.

Uto anọgide undersized. N'ihi ekwesịghị ịdị ogologo na deformities nke ọkpụkpụ azụ, ndị ọrịa na-aga na kpebisiri ụkwụ, na tiptoe.

Hurler syndrome nwere aga n'ihu ịza aza agwa, otú ọrịa nkwarụ emee nnọọ ngwa ngwa. Ọtụtụ na-adịghị adị ndụ ọbụna 10 afọ.

nchọpụta nsogbu

Onye ọrịa ga-eduzi ndị na-adakarị, radiological, Biochemical, usoro ọmụmụ na molekụla mkpụrụ ndụ ihe nketa ọmụmụ. Diagnosis e mere na-adakarị ngosipụta nke ọrịa, dabeere na X-ray ọmụmụ na analysis of mmamịrị, nke kpebisiri ike site enzyme ọrụ na excretion nke glycosaminoglycans.

ọgwụgwọ nke mucopolysaccharidosis

Ọ bụrụ na onye ọrịa na-chọpụtara "Hurler syndrome" ọgwụgwọ na-agụnye ogologo symptomatic. Onye ọrịa a hụrụ na mgbagwoju orthopedic, dọkịta na-awa, pediatrician, otolaryngologist, a neurosurgeon, ọkà mmụta ọrịa akwara ophthalmologist. Ọrịa wara orthopedic mgbazi nke ọrịa nke nweekwa usoro, wepụ hainia emeso ugboro ugboro okosobode na ndị ọrịa a malitere ịrịa ọrịa, na-anụ ọnwụ, otitis, Sinusitis. Ọzọkwa dara n'okpuru nlekọta nke obi usoro.

Eji mmiri ọgwụ ọgwụ ọjọọ na-anọ nwa oge ime ka ọnọdụ nke onye ọrịa:

• glucocorticoids,
• corticotropin,
• tireoidin.

Ke adianade do, ọrịa na-egosi na vitamin A, dextran 70, nke nwa oge ime ka ọnọdụ nke onye ọrịa. Short-okwu mma enye ọbara plasma mịnye preparations.

Hurler syndrome mgbe onye ọrịa nwere ike kenyere physiotherapy: Electrophoresis lidazy na ebe nke emetụtara nkwonkwo, laser mgbapu, magnetik ọgwụ, paraffin baths. Ọzọkwa, ọrịa na-ume na-arụ ọgwụgwọ anụ ahụ, omume nke na-emetụta nkwonkwo na spain. Arụpụta ezi mgbe na-enye ịhịa aka n'ahụ.

Ebe ọ bụ na Hurler syndrome ọrịa susceptible ka akụkụ okuku ume na ọrịa, ga-adọ rụrụ sanation ọrịa foci na ọnụ na nasopharynx.

Maka ọgwụgwọ nke mucopolysaccharidosis ụdị 1 na-rụrụ ịwa - corneal transplantation na mgbazi nke valvular ọrịa obi na ọrịa akwara pụọ n'iji ụgwọ. Mba na mba na-eme, na mgbakwunye na symptomatic ọgwụgwọ ọgwụ ọjọọ, physiotherapy ma ọ bụ ịwa ahụ iji enzyme ọgwụ na esiwe na cell transplantation.

Ọ bụrụ na ọ dị mkpa, na-enwe ndidi na-rụrụ gryzheissecheniya, adenoidectomy, antiglaucomatous ọrụ, tracheostomy, prosthetic hip nkwonkwo, hydrocephalus shunt, etc ..

ele ihe anya

The amụma na-adịghị mma maka Hurler syndrome na ndị ọzọ na iche na nwere mucopolysaccharidosis. Hurler syndrome e ji kasị ukwuu obi nkoropụ. skeletal mgbanwe site n'afọ ruo n'afọ na-abawanye, dị ka a n'ihi nke akụkụ na usoro bụ isiokwu ọzọ dị ịrịba ama imebi. Ọ bụrụ nwatakịrị ka oyi baa na nwata, site 7-12 afọ na ọ bụ na-enweghị enyemaka ma n'ahụ ma n'uche nwere nkwarụ. Iji uto ndụ unit.

mgbochi

Gbochie oria agaghị ekwe omume. Ma i nwere ike ịchọpụta na ọ na nzọụkwụ mbụ - mgbe prenatal nchoputa. Iji mee nke a, ihe analysis of mmiri mkpụrụ ndụ maka enzyme erughi (na ikpe nke a mma pụta nke ime ihe na-ete ime na-atụ aro).

N'ihi n'oge nchoputa na-adọ ọgwụgwọ nke mepụtara ọgidigi azụ mkpakọ pụrụ izere na-adịgide adịgide mmebi nke akwara. obligatory na ọgwụ na ahụ ike na mkpụrụ ndụ ihe nketa ndụmọdụ maka mgbochi.

ọgwụgwọ amụma

N'agbanyeghị ihe isi ike na usoro nke ọgwụgwọ nke Hurler syndrome, na afọ 20 gara aga na ọtụtụ mba ndị mepere emepe, a ụmị ọkpụkpụ transplant, nke budata mma nke ndụ nke ọrịa. Ihe karịrị 10 afọ na-eji ọgwụ ọjọọ eme nnọchi ọgwụ maka ọgwụgwọ nke ụdị nile nke mucopolysaccharidosis bụghị akwara ozi.