Pseudohypoparathyroidism

ʻO Pseudohypoparathyroidism (PHP) kahi maʻi maʻi a ke kino e pane ʻole i ka hormone parathyroid.

ʻO kahi ʻano pili ka hypoparathyroidism, kahi i lawa ʻole ai ke kino o ka parathyroid hormone.

Hoʻopuka nā ʻōpala parathyroid i ka hormone parathyroid (PTH). Kōkua ʻo PTH i ka mālama ʻana i ka pae o ka pākika, phosphorus, a me ka wikamina D i loko o ke koko a he mea nui ia no ke olakino iwi.

Inā loaʻa iā PHP, hoʻopuka kou kino i ka nui kūpono o PTH, akā "kūpaʻa" i ka hopena. ʻO kēia ke kumu o ke kiʻekiʻe o ka pae o ke kōkō a me nā kiʻekiʻe o ka phosphate koko.

Hoʻokumu ʻia ʻo PHP e nā genec abnormal. Aia nā ʻano ʻokoʻa o PHP. Kākaʻikahi nā ʻano āpau a ʻike pinepine ʻia i ka wā kamaliʻi.

• ʻAno hoʻoilina 1a ma ke ʻano autosomal domant. ʻO ke kumu hoʻokahi wale nō mākua e pono e hele i nā ʻāpana hewa nou e loaʻa iā ʻoe ka maʻi. Kāhea ʻia ia hoʻi ʻo Albright herstaryary osteodystrophy. ʻO ke kumu ke kumu o ke kino pōkole, ke alo a puni, ka momona, ka lohi o ka hoʻomohala ʻana, a me nā iwi lima pōkole. Pili nā ʻōuli inā ʻoe e hoʻoilina i ka ʻāpana mai kou makuahine a makua kāne paha.
• ʻAno 1b pili i ke kūpaʻa ʻana i ka PTH wale nō i nā puʻupaʻa. ʻAʻoleʻike iki ʻia e pili ana i ka ʻano 1b ma mua o ka ʻano 1a. Haʻahaʻa ka kalipuna i loko o ke koko, akā ʻaʻohe o nā ʻano hiʻohiʻona ʻē aʻe o Albright herstaryary osteodystrophy.
• Pākuʻi 2 pū kekahi i ke kiʻekiʻe o ke kōpaʻa o ke koko a me nā kiʻekiʻe o ke koko phosphate kiʻekiʻe. ʻO ka poʻe me kēia palapala ʻaʻohe o lākou ʻano kino i maʻa mau i ka poʻe me ʻAno 1a. ʻAʻole ʻike ʻia ke ʻano ʻino o ke aʻa. ʻOkoʻa ia mai ʻAno 1b i ka pane ʻana o ka hakuʻala i nā kiʻekiʻe PTH kiʻekiʻe.

Pili nā ʻōuli i kahi pae haʻahaʻa o ka calcium a hoʻokomo pū ʻia:

• Kālepaʻa
• Nā pilikia kahua niho
• Pōpō
• Ka hopu ʻana i nā maʻi
• Tetany (kahi hōʻiliʻili o nā ʻōuli e like me nā twitches o ka mākala a me nā ʻūlū lima a me nā wāwae a me nā spasms muscle)

Loaʻa i nā kānaka me ka osteodystrophy hoʻoilina Albright i kēia mau ʻōuli:

• Waiho Calcium ma lalo o ka ʻili
• Nā Dimples i hiki ke pani i nā knuckles ma nā manamana lima i luhi ʻia
• Poepoe alo a me ka ʻāʻī pokole
• ʻO nā iwi lima pōkole, keu hoʻi ka iwi ma lalo o ka manamana ʻehā
• Kiʻekiʻena kiʻekiʻe

E hana ʻia nā hoʻokolohua koko e nānā i nā pae calcium, phosphorus, a me PTH. Pono paha ʻoe i nā hoʻokolohua mimi.

Hiki i nā hoʻokolohua ʻē aʻe ke:

• Ke hoʻāʻo genetic
• Head MRI a i ʻole CT scan o ka lolo

E paipai kāu mea mālama olakino i nā mea hoʻopiha calcium a me nā huaora D e mālama i kahi pae calcium pono. Inā kiʻekiʻe ke kiʻekiʻe o ka phosphate koko, pono ʻoe e hāhai i ka papaʻai low-phosphorus a i ʻole lawe i nā lāʻau i kapa ʻia ʻo nā phosphate binders (e like me calcium carbonate a i ʻole calcium acetate). ʻO ka maʻamau maʻamau ke ola.

ʻOi aku ka haʻahaʻa o ka calcium o ke koko haʻahaʻa ma PHP ma mua o nā ʻano hypoparathyroidism, akā hiki ke ʻokoʻa ke koʻikoʻi o nā ʻōuli ma waena o nā kānaka like ʻole.

ʻO ka poʻe me ka ʻano 1a PHP e loaʻa paha nā pilikia ʻōnaehana endocrine ʻē aʻe (e like me hypothyroidism a me hypogonadism).

Pili paha ʻo PHP i nā pilikia hormone ʻē aʻe, e hopena ana i:

• Kaha hoʻohaʻahaʻa haʻahaʻa
• Hoʻolālā moe lohi
• Nā pae ikehu haʻahaʻa
• Kaumaha hoʻonui

Kāhea aku i kāu mea hāʻawi inā loaʻa iā ʻoe a ʻo kāu keiki paha nā ʻōuli o kahi pae calcium liʻiliʻi a pseudohypoparathyroidism paha.

Osteodystrophy hoʻoilina hoʻoilina; Nā ʻano 1A a me 1B pseudohypoparathyroidism; PHP

• Nānā Endocrine
• Nūʻau parathyroid

ʻO Bastepe M, Juppner H. Pseudohypoparathyroidism, ka osteodystrophy hoʻoilina o Albright, a me ka heteroplasia osseous holomua: nā maʻi i hoʻokumu ʻia e ka hoʻopiʻi GNAS. I: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Makua a Pediatric. ʻEpekema 7 Piladelapia, PA: Elsevier Saunders; 2016: chap 66.

ʻO Doyle DA. Pseudohypoparathyroidism (Albright hoʻoilina hoʻoilina). 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 590.

ʻO Thakker RV. ʻO nā gland parathyroid, hypercalcemia a me hypocalcemia. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 232.