ʻO Russell-Silver maʻi

ʻO Russell-Silver syndrome (RSS) kahi maʻi i loaʻa i ka wā hānau e pili ana i ka ulu maikaʻi ʻole. ʻO kekahi ʻaoʻao o ke kino paha e ʻoi aku ka nui ma mua o kekahi.

Loaʻa i kahi o 10 mau keiki me kēia maʻi i kahi pilikia e pili ana i ka chromosome 7. I nā poʻe ʻē aʻe me ka maʻi, hiki paha ke hopena iā chromosome 11.

ʻO ka hapanui o ka manawa, kū ia i ka poʻe me ka ʻole o ka moʻolelo ʻohana o ka maʻi.

Hoʻololi ka nui o ka heluna o ka poʻe i hoʻomohala i kēia ʻano. Hoʻopili like ʻia nā kāne a me nā wahine.

Hiki i nā ʻōuli ke hoʻohui pū:

• ʻO nā ʻōuli hānau ke ʻano o ke kofe me ka waiū (cafe-au-lait mark)
• ʻO ke poʻo nui no ka nui o ke kino, ka lae ākea me ka helehelena triangle liʻiliʻi a me ka liʻiliʻi liʻiliʻi
  
• Ke piko ʻana o ka pinky i ka manamana lima
• Ka holomua ʻole ʻana, me ka lohi o ka makahiki o ka iwi
• Kaumaha hānau haʻahaʻa
• ʻO ke kiʻekiʻe pōkole, nā lima pōkole, nā manamana a me nā manamana wāwae
• ʻO nā pilikia o ka ʻōpū a me ka ʻōpū e like me ka reflux acid a me ka constipation

Hoʻomaopopo pinepine ʻia ke ʻano e ka wā kamaliʻi. E hana ka mea mālama ola i kahi hoʻokolohua kino.

ʻAʻohe hōʻike hoʻokolohua kikoʻī e ʻike pono ai RSS. Hoʻokumu pinepine ʻia ka hōʻailona ma ka hoʻokolokolo ʻana o kāu mea hāʻawi i kāu keiki. Eia nō naʻe, e hana ʻia kēia mau hōʻike aʻe:

• Koko kō (ʻo kekahi mau keiki e loaʻa i ke kō kō haʻahaʻa)
• ʻO ka hoʻāʻo ʻana o nā makahiki iwi (ʻoi aku ka liʻiliʻi o ka makahiki iwi ma mua o ka makahiki maoli o ke keiki)
• Ke hoʻāʻo genetic (ʻike paha i kahi pilikia chromosomal)
• ʻO ka hormone ulu (hiki i kekahi mau keiki ke hemahema)
• Nānā iwi (e kāpae i nā kūlana ʻē aʻe i mimic RSS).

Hiki ke kōkua i ka hoʻoliʻiliʻi hormone ulu inā nele kēia hormone. ʻO nā ʻano lāʻau ʻē aʻe kekahi:

• E hōʻoia i ka loaʻa ʻana o ka nui o nā calori e ke kanaka e pale aku ai i ke kō kō liʻiliʻi a paipai i ka ulu ʻana
• Hoʻoikaika kino e hoʻomaikaʻi ai i ke kani o nā mākala
• ʻO ke kōkua aʻo e hoʻoponopono ai i ke kino kīnā a me ka pilikia o ka hemahema o ka noʻonoʻo i ke keiki

Pili paha nā loea he nui i ka mālama ʻana i kekahi kanaka me kēia ʻano. Pākuʻi ʻia lākou:

• He kauka e loea ana i nā genetics e kōkua i ke kuhi ʻana iā RSS
• ʻO kahi gastroenterologist a i ʻole mea kālaʻai e kōkua i ka hoʻomohala ʻana i ka papaʻai kūpono e hoʻonui ai i ka ulu ʻana
• ʻO kahi endocrinologist e kuhikuhi i ka hormone ulu
• He kākāʻōlelo a me psychologist

ʻAʻole hōʻike nā keiki makua a me nā mākua i nā hiʻohiʻona hiʻohiʻona e like me ka maopopo o nā pēpē a me nā keiki liʻiliʻi. Maʻamau paha ka ʻike, ʻoiai he maʻi kīnā paha ko ke kanaka.Hiki ke loaʻa nā hemahema hānau o ka urinary tract.

Loaʻa paha kēia mau pilikia i ka poʻe me RSS:

• ʻO ka nau ʻana a i ʻole ka ʻōlelo paʻakikī inā liʻiliʻi ka iwi ā
• Nā pilikia kīnā

Kāhea i ka hāʻawi o kāu keiki inā ulu nā hōʻailona o RSS. E hōʻoia i ke kiʻekiʻe a me ke kaumaha o kāu keiki i ana ʻia i kēlā me kēia kipa maikaʻi a ke keiki. E kuhikuhi paha ka mea hāʻawi iā ʻoe iā:

• ʻO kahi loea kūlohelohe no ka loiloi piha a me nā chromosome
• ʻO kahi endocrinologist pediatric no ka mālama ʻana i nā pilikia ulu o kāu keiki

Silver-Russell maʻi pale; Maʻi ʻaukā kala; RSS; ʻO Russell-Silver maʻi

ʻO Haldeman-Englert CR, Saitta SC, Zackai EH. Nā maʻi Chromosome. I: Gleason CA, Juul SE, eds. Nā maʻi o Avery o ke keiki hānau. 10 o ka lā. Piladelapia, PA: Elsevier; 2018: chap 20.

Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. ʻIke a me ka hoʻokele o ka Silver-Russell maʻi: ka ʻōlelo mua aelike kūwaho. Nat Rev Endocrinol. 2017; 13 (2): 105-124. PMID: 27585961 pubmed.ncbi.nlm.nih.gov/27585961/.