Ke hopohopo nei ʻoe no ka ulu ʻana o kāu keiki liʻiliʻi? E aʻo kākou e pili ana i ka Russell-Silver Syndrome!

Ua manaʻo paha ʻoe ua lohi iki ka ulu ʻana o kāu pēpē? A i ʻole ua ʻōlelo mai nā kauka ua hānau ʻia ke pēpē me ke kaumaha haʻahaʻa i ka wā hānau a i ʻole he ʻano like ʻole kona? I kekahi manawa, hiki i nā mea e like me kēia ke hoʻopūhoihoi nui iā mākou ma ke ʻano he mau mākua. I kēia lā, e kamaʻilio mākou e pili ana i kekahi ʻano maʻi kakaʻikahi akā koʻikoʻi e makaʻala. ʻO ia ka Russell-Silver Syndrome.

ʻO wai ka mea hiki ke loaʻa i kēia maʻi? Pehea ka maʻamau?

ʻO kaʻoiaʻiʻo, hiki i ka maʻi Russell-Silver ke hoʻopilikia i kekahi keiki. Hoʻopilikia like ia i nā keikikāne a me nā kaikamahine. Eia nō naʻe, he maʻi genetic kakaikahi ia. Ma ke ʻano helu, hoʻopilikia ia ma kahi o hoʻokahi i loko o 15,000 a hoʻokahi i loko o 100,000 mau hānau ʻana. He paʻakikī ke hāʻawi i kahi helu pololei, no ka mea, i kekahi manawa ua like nā hōʻailona o kēia ʻano me nā maʻi ulu ʻē aʻe, a i kekahi manawa ʻaʻole lākou i ʻike ʻia.

Ua ʻike mua ʻia kēia maʻi i ka makahiki 1953 e Kauka Henry Silver. A laila i ka makahiki 1954, ua ʻike ʻo Kauka Alexander Russell i kekahi mau hiʻohiʻona hou aʻe. I ka wā mua, no kahi o 20 mau makahiki, ua manaʻo nā kānaka noiʻi ua ʻike kēia mau kāne ʻelua i ʻelua mau maʻi like ʻole. Ma hope mai ua ʻike ʻia ua ʻike lāua i nā ʻano like ʻole o ka maʻi hoʻokahi. ʻO ia ke kumu i kapa ʻia ai i kēia manawa ʻo Russell-Silver syndrome. Ma kekahi mau ʻāina, ʻoi aku hoʻi ma ʻEulopa, ua kapa ʻia hoʻi ʻo Silver-Russell syndrome.

He aha nā hōʻailona o ka Russell-Silver Syndrome?

ʻO kēia ka mea nui loa. Hiki ke ʻokoʻa loa nā hōʻailona mai kekahi keiki a i kekahi keiki. A hiki iā lākou ke hoʻopilikia i nā ʻāpana like ʻole o ke kino. E nānā kākou i nā hōʻailona nui.

Nā ʻano e pili ana i ka ulu ʻana

Aia kekahi mau ʻano kūikawā e ʻike ʻia i ka ulu ʻana o kēia mau keiki:

• Kaohi ulu ʻana o ka pēpē i loko o ka ʻōpū (IUGR): ʻO ke ʻano kēia, ʻaʻole ulu ka pēpē e like me ka mea i manaʻo ʻia i loko o ka ʻōpū.
• Kaumaha haʻahaʻa i ka wā hānau : ʻOi aku ke kaumaha ma mua o ka maʻamau i ka wā hānau.
• ʻO ka hiki ʻole ke ulu pono a me ka piʻi ʻole o ke kaumaha ma hope o ka hānau ʻana : He pilikia nō hoʻi kēia no nā makuahine he nui.
• Kino pōkole: ʻOi aku ka pōkole ma mua o nā keiki ʻē aʻe o ka makahiki like.

Nā hiʻohiʻona iwi poʻo a me ke alo

Hiki ke ʻike ʻia kekahi mau mea ʻano ʻē ma ke ʻano o ka maka a me ka nui o ke poʻo o kēia mau keiki:

• He nui ke poʻo i hoʻohālikelike ʻia me ke koena o ke kino (e pili ana i ke kiʻekiʻe a me ke kaumaha).
• ʻO ka fontanelle, a i ʻole kahi palupalu ma ke poʻo, he manawa ka lōʻihi e pani ai.
• Loaʻa i kahi helehelena huinakolu .
• He lae e ʻō aku ana i mua .
• He ʻauwae ololi .
• ʻĀwae liʻiliʻi `(micrognathia)`.
• Me he mea lā ua hoʻohuli ʻia nā kihi o ka waha i lalo .

Nā pilikia niho

Aia paha kekahi mau pilikia e pili ana i nā niho:

• Ka nalowale ʻana o kekahi mau niho (hypodontia).
• Loaʻa nā niho liʻiliʻi ʻokoʻa (microdontia).
• Ka paʻa ʻana o nā niho .
• I kekahi manawa aia nā kūlana e like me ka palale māwae .

Nā ʻano kino ʻē aʻe

Aia kekahi mau hōʻailona kino ʻē aʻe, ʻo ia hoʻi:

• ʻOkoʻa ma ka lōʻihi o nā lima a me nā wāwae ma nā ʻaoʻao ʻelua (hemihipertrophy).
• Ua kulou ʻia ka manamana lima liʻiliʻi i loko (clinodactyly).
• ʻO ke skoliosis .

He aha nā pilikia e hiki mai ana o ka Russell-Silver syndrome?

He mea nui e makaʻala i nā hopena kino o ka maʻi Russell-Silver, hiki ke hoʻopilikia i nā pilikia olakino like ʻole no kāu keiki.

Ka paʻakikī i ka ʻai ʻana a me ka inu ʻana

• Makemake nui : Hiki i ke keiki ke nalowale ka hoihoi i ka ʻai ʻana.
• ʻO ka reflux waikawa mau loa (GERD - Gastroesophageal Reflux Disease): ʻO ke ʻano kēia, ke kahe nei ka waikawa o ka ʻōpū i luna i loko o ka puʻu.
• ʻEsophagitis : ʻO kēia kūlana (GERD) ke kumu e mumū ai ka esophagus.

Nā pilikia e pili ana i ka ulu ʻana o ke aʻalolo

• Ka lohi o ka hoʻomohala ʻana: ʻO ia hoʻi, ua lohi nā mea e like me ka ʻōwili ʻana, ka noho ʻana i luna, a me ka hele wāwae.
• Ka lohi o ka ʻōlelo .
• Nā ʻokoʻa o ke aʻo ʻana : Hiki ke kū mai kekahi mau pilikia ma nā hana kula.

Nā pilikia ʻē aʻe

• Ka lohi o ka ulu ʻana .
• Ka paʻakikī i ka hele wāwae a i ʻole ka mālama ʻana i ke kaulike .
• Haʻahaʻa ke kō koko (hypoglycemia).
• Nā pilikia puʻupaʻa .
• Nā pilikia me ka ʻōnaehana hānau a me ka ʻōnaehana mimi .

Pehea ka hopena o ka maʻi Russell-Silver i nā pākeke?

He pōkole ka poʻe pākeke me ka maʻi Russell-Silver. ʻO ke kiʻekiʻe o nā kāne ma kahi o 4 kapuaʻi 11 ʻīniha. ʻO ke kiʻekiʻe o nā wahine ma kahi o 4 kapuaʻi 7 ʻīniha.

Eia kekahi, ua ʻike ʻia e ka noiʻi he pilikia kēia poʻe i ka loaʻa ʻana o nā pilikia olakino hou i ko lākou wā ʻelemakule. ʻO kēia mau mea:

• ʻO ka maʻi metabolic.
• Ua emi ka nui o nā ʻiʻo .
• Ua emi ka nui o ka iwi .
• Hoʻemi ʻia ka makemake moekolohe (hypogonadism).
• Ka maʻi ʻaʻai testicle .
• ʻO Myoclonus dystonia : He kūlana kēia e hoʻoulu ai i nā neʻe koke a kaohi ʻole.

He aha ke kumu o kēia maʻi?

He ʻano paʻakikī iki ka maʻi Russell-Silver. Hoʻokumu ʻia ia e nā ʻano ʻē i kekahi mau genes e kaohi ana i ka ulu ʻana o ke kino.I kēia manawa, ua ʻike ʻia ma kahi o 60% o ka poʻe me kēia maʻi i hoʻokumu ʻia e nā loli genetic i nā chromosomes 7 a i ʻole 11.

Akā, he mea kupanaha, ma kahi o 40% o ka poʻe i ʻike ʻia me ka maʻi i ka maʻi ʻaʻohe kumu hoʻoilina i ʻike ʻia. He hiki ke hoʻokumu ʻia ke ʻano e nā loli i nā chromosomes ʻē aʻe ma mua o nā chromosomes 7 a me 11. Ke noiʻi nei nā kānaka noiʻi i nā loli hoʻoilina ʻē aʻe e pili ana i ka maʻi.

Pehea e hana ʻia ai ka hōʻailona?

Hiki i kekahi manawa ke paʻakikī ke ʻike i ka maʻi Russell-Silver. E like me ka mea i ʻōlelo ʻia ma mua, ʻokoʻa loa nā hōʻailona a me ke koʻikoʻi o ke ʻano mai kekahi keiki a i kekahi keiki. Eia nō naʻe, e hana mua ke kauka o kāu keiki i kahi hoʻokolokolo kino piha . Hiki iā ia ke ʻōlelo aku i ka hoʻāʻo ʻana i ka genetic molecular . Hiki i kēia hoʻāʻo genetic ke hōʻoia i ka hōʻailona ma kahi o 60% o nā hihia.

Pehea e mālama ʻia ai ka maʻi Russell-Silver?

ʻOkoʻa ke ʻano o ka mālama ʻana i kēia maʻi mai kēlā keiki a kēia keiki. Aia ia i nā hōʻailona a me ke koʻikoʻi o ke ʻano. ʻO ka mea nui loa, ʻo ia ka hoʻomaka ʻana i ka mālama ʻana i ka wā hikiwawe loa . ʻO kēia ka manawa e loaʻa ai i kāu keiki ka hopena maikaʻi loa. E mālama kahi hui o nā loea i kāu pēpē. Hiki i kēia hui ke komo pū me:

• Kauka lapaʻau keiki o kāu pēpē.
• He kauka keiki no ka ulu ʻana .
• He loea iwi .
• He kauka endocrinologist kahi kauka i loea i ka mālama ʻana i nā kelepa endocrine a me nā hormones .
• He kauka loea i ka ʻōnaehana hoʻoheheʻe (gastroenterologist).
• Mea ʻai meaʻai .
• He kauka neurologist .
• He loea niho .
• Luna hoʻōla ʻōlelo .
• He loea noʻonoʻo .
• He kākā'ōlelo genetic a he loea genetic .

Hoʻoholo ʻia nā koho lapaʻau ma muli o ke kūlana o ke keiki:

Lapaʻau no ka ulu ʻana

ʻO ka lāʻau lapaʻau koʻikoʻi loa i nā makahiki ʻelua mua o ke ola o ke keiki, ʻo ia ke kākoʻo meaʻai . E hōʻoia nā kauka e loaʻa ana i ke keiki ka nui kūpono o nā calorie. Inā pono, hiki ke hoʻohana ʻia kahi ʻōmole hānai no kēia kumu:

• ʻO ka paipu Nasogastric: Ma kēia, ua hoʻokomo ʻia kahi paipu lahilahi ma ka ihu o ka pēpē, ka esophagus, a me ka ʻōpū.
• ʻO kahi paipu gastrostomy: Ma kēia, hana ʻia kahi ʻoki liʻiliʻi ma ka paia o ka ʻōpū o ke pēpē a hoʻokomo pololei ʻia kahi paipu i loko o ka ʻōpū.

Lapaʻau hormone ulu (lapaʻau GH):

Me kēia lāʻau lapaʻau:

• Hoʻomaikaʻi i ke ʻano o ke kino o ke keiki, ka ulu ʻana o ka neʻe, a me ka makemake e ʻai.
• Hoʻemi i ka pilikia o ka haʻahaʻa o ke kō koko (hypoglycemia).
• Hoʻonui i ka ulu ʻana .

Ka mālama ʻana i nā pilikia ʻai a me ka inu ʻana

Hiki ke mālama ʻia ka reflux acid e like me kēia:

• E hoʻolako i nā meaʻai liʻiliʻi a pinepine .
• Ke paʻa pololei nei i ke pēpē i ka wā e hānai ana.
• Nā lāʻau lapaʻau: Nā mea pale H2, e hōʻemi ana i ka hana ʻakika, a me nā lāʻau lapaʻau ikaika aʻe, e like me nā mea pale proton pump , e kōkua pū ana i ka ho'ōla ʻana i nā ʻeha ma ka esophagus.
• Fundoplication : He hana ʻoki kino kēia e hoʻoikaika ai i ka valve (sphincter) ma waena o ka esophagus a me ka ʻōpū o ke pēpē.

Lapaʻau no ke kō koko haʻahaʻa (Hypoglycemia)

Hiki ke mālama ʻia kēia penei:

• Ka hoʻolako pinepine ʻana i ka meaʻai .
• Nā mea hoʻohui meaʻai.
• Nā meaʻai i loaʻa nā kalapona paʻakikī .

Ka mālama ʻana no nā pilikia niho

Pono paha nā ʻano lapaʻau niho like ʻole, e like me nā pale niho a i ʻole ke ʻoki waha, e hoʻoponopono i nā pilikia me nā niho o kāu keiki.

Ka mālama ʻana no nā pilikia ʻē aʻe

I kekahi manawa, hiki i nā pale lima a i ʻole nā ​​kāmaʻa kūikawā ke kōkua i ka hoʻomaikaʻi ʻana i ka hele wāwae a me ke kaulike. ʻAʻole pono pinepine ke ʻoki ʻana e hoʻoponopono i ka asymmetry o nā lālā.

Pehea e mālama ai i nā hōʻailona?

Ma waho aʻe o ka lāʻau lapaʻau, hiki i ke kauka o kāu pēpē ke paipai i kekahi mau ʻano lapaʻau ʻē aʻe. ʻO kēia mau mea:

• Lapaʻau Psychosocial : Hāʻawi nā mea lapaʻau psychosocial (nā limahana kaiaulu) i ke kākoʻo olakino noʻonoʻo. Kōkua lākou i nā pilikia e pili ana i ka manaʻo ponoʻī o ke keiki, nā pilina hoa, a me nā pilina pili kanaka.
• ʻŌlelo aʻoaʻo genetic : Hiki i nā kākāʻōlelo genetic ke hōʻoia i ka maʻi o kāu pēpē a hāʻawi iā ʻoe a me kou ʻohana i nā ʻōlelo aʻoaʻo e pono ai.
• Hoʻōla kino : Kōkua nā mea hoʻōla kino i ka hoʻolōʻihi a me ka hoʻoikaika ʻana i nā ʻiʻo a me nā aʻalolo o ke keiki ma o nā hoʻoikaika kino.
• Hoʻōla hana : Kōkua nā mea hoʻōla hana me nā mea e like me nā mākau kaʻa maikaʻi, ka ʻike maka, ka noʻonoʻo noʻonoʻo, a me ke kaʻina hana sensory.
• Hoʻōla ʻōlelo : Kōkua nā mea hoʻōla ʻōlelo me nā pilikia e pili ana i ka ʻōlelo, ka ʻōlelo, ke kamaʻilio ʻana, a me ka ʻai ʻana a me ke ale ʻana.

Pehea e hiki ai iaʻu ke hōʻemi i ka pilikia o ka loaʻa ʻana o ka Russell-Silver syndrome i kaʻu keiki?

ʻO ka maʻi Russell-Silver ka hopena o kahi loli hoʻoilina.No laila, ʻaʻohe ala e pale aku ai i kēia maʻi. Inā ʻoe e hoʻolālā ana e hāpai a makemake e hoʻomaopopo i ka pilikia o ka loaʻa ʻana o kahi pēpē me kahi maʻi genetic, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic preconception .

He aha kaʻu e manaʻo ai inā loaʻa i kaʻu keiki ka Russell-Silver syndrome?

He maʻi ola ke ʻano o ka maʻi Russell-Silver. Eia naʻe, ʻaʻohe ona hopena ʻaoʻao e hoʻoweliweli i ke ola. Hiki iā ʻoe ke noʻonoʻo pono e pili ana i ka wā e hiki mai ana o kāu keiki. Akā, pili ia i ka hōʻailona a me ka lāʻau lapaʻau. Pono kāu pēpē i ka nānā koke ʻana i ke kauka a me ka hahai ʻana. Inā mālama mua ʻia a kūleʻa, hiki i kāu pēpē ke ola i kahi ola maʻamau .

He aha ka ʻokoʻa ma waena o ka Russell-Silver syndrome a me ka Silver syndrome?

He mau maʻi genetic kakaikahi nā mea ʻelua i hoʻokumu ʻia e kahi loli o kahi gene. Eia nō naʻe, ʻo Silver syndrome ke kumu o kahi loli o ka gene BSCL2 . ʻO Silver syndrome kahi maʻi genetic e hoʻoulu ai i ka ʻoʻoleʻa o nā mākala (spasticity) a me ka maʻi lolo o nā lālā haʻahaʻa (paraplegia). Hoʻomaka pinepine nā hōʻailona o Silver syndrome i ka wā kamaliʻi . Hiki ke ʻoi aku ka ʻino o nā hōʻailona i ka wā e ʻelemakule ai ka poʻe, akā hiki i ka poʻe me ke ʻano ke alakaʻi i nā ola hana.

Hiki ke kaumaha ka lohe ʻana i kahi hōʻailona o ka maʻi Russell-Silver. Eia nō naʻe, ʻo ka mea nui e hoʻomanaʻo ai, ʻo ka nānā ʻana no nā keiki i hānau ʻia me kēia maʻi he maikaʻi maʻamau. Inā ʻike ʻia a mālama ʻia i ka wā mua, ʻaʻole ia he maʻi hoʻoweliweli i ke ola ka maʻi Russell-Silver. E hana pū kahi hui o nā kauka loea me ʻoe a me kāu keiki e kōkua iā lākou e ola i kahi ola maʻamau a olakino.

No laila, he aha nā mea e pono ai kākou e hoʻomanaʻo mai kēia moʻolelo? (Leka Lawe-Home)

ʻAe, ke lana nei koʻu manaʻo ua ʻike maikaʻi ʻoe i ka Russell-Silver Syndrome a mākou i kamaʻilio ai. He mea maʻamau ka hopohopo ke lohe ʻoe i kahi maʻi e like me kēia. Eia naʻe, ʻo ka mea nui loa, ʻaʻole ia e hopohopo, e kiʻi i ka ʻike kūpono, a e hana i nā hana e pono ai.

• He maʻi laha ʻole ka Russell-Silver syndrome e hoʻopilikia ai i ka ulu ʻana o ke keiki, ʻoiai ma mua a ma hope o ka hānau ʻana.
• ʻOkoʻa nā hōʻailona mai kēlā keiki a kēia keiki, no laila he mea nui e ʻimi i ke kōkua lapaʻau inā he mau hopohopo kou e pili ana i ka ulu ʻana o kāu keiki a i ʻole kona helehelena.
• ʻO ka ʻike mua ʻana a me ka hoʻomaka ʻana o ka lāʻau kūpono ka mea maikaʻi loa no ke keiki. Pono kēia i ke kōkua o nā loea like ʻole.
• ʻOiai ke hoʻomau nei kēia kūlana i ke ola a pau, ʻaʻole ia he mea hoʻoweliweli i ke ola. Me ka mālama pono ʻana, hiki i ke keiki ke ola i kahi ola maʻamau.
• ʻAʻole ʻoe hoʻokahi. Nui nā poʻe e like me nā kauka, nā kākāʻōlelo, a me nā mea hoʻōla e hiki ke kōkua iā ʻoe a me kāu keiki ma kēia kūlana.

ʻO ka mea hope loa, mai makaʻu e kamaʻilio me ke kauka e pili ana i nā hopohopo āu e pili ana i ke olakino o kāu keiki. Me ke alakaʻi kūpono a me ke kākoʻo, hiki iā mākou ke lanakila i kekahi pilikia.

ʻO ka maʻi Russell-Silver, ʻO ka maʻi Russell-Silver, nā maʻi genetic, ka ulu ʻana o ke keiki, ke kaumaha hānau haʻahaʻa, ke kino pōkole, ka lohi o ka ulu ʻana