Pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) yog kev mob caj ces tsis haum rau lub cev ua rau cov kabmob parathyroid tsis txaus.

Ib qho xwm txheej cuam tshuam yog hypoparathyroidism, uas lub cev tsis ua kom zoo txaus parathyroid hormone.

Parathyroid qog ua cov parathyroid hormone (PTH). PTH pab tswj cov calcium, phosphorus, thiab cov vitamin D ntau ntau hauv cov ntshav thiab nws tseem ceeb rau kev noj qab haus huv pob txha.

Yog tias koj muaj PHP, koj lub cev ua cov PTH ntau, tab sis "tiv taus" rau nws cov nyhuv. Qhov no ua rau cov ntshav cov ntshav calcium qis thiab cov ntshav phosphate ntau ntau.

PHP tshwm sim los ntawm caj ces txawv txav. Nws muaj ntau yam ntawm PHP. Txhua daim foos yog muaj tsawg thiab feem ntau kuaj tau rau menyuam yaus.

• Hom 1a yog pub raws caj ces yam uas muaj sia. Nws txhais tau tias tsuas yog ib tus niam txiv xav tau hla koj tus xeeb leej xeeb ntxwv rau koj kom muaj tus mob. Nws tseem hu ua Albright keeb kwm txha caj qaum osteodystrophy. Tus mob ua rau luv luv, lub ntsej muag puag ncig, kev rog, kev loj hlob qeeb, thiab cov pob txha tes luv. Cov tsos mob nyob ntawm seb koj puas txais cov gene los ntawm koj niam lossis koj txiv.
• Hom 1b cuam tshuam nrog PTH tsuas yog nyob hauv lub raum. Tsawg dua yog paub txog hom 1b tshaj li hom 1a. Cov calcium nyob rau hauv cov ntshav tau qis, tab sis tsis muaj lwm tus yam ntxwv ntawm Albright cov kab mob txha caj qaum osteodystrophy.
• Yam 2 tseem cuam tshuam txog cov ntshav cov calcium thiab cov ntshav phosphate ntau ntxiv. Cov neeg uas muaj daim ntawv no tsis muaj kev coj ua lub cev zoo rau cov neeg uas Muaj Hom 1a. Cov caj ces txawv txav uas ua rau nws tsis paub. Nws txawv ntawm Hom 1b ua li cas lub raum teb rau qib PTH siab.

Cov tsos mob cuam tshuam nrog qhov tsis muaj calcium thiab suav nrog:

• Cataracts
• Hniav Teeb meem
• Looj
• Qaug dab peg
• Tetany (sau ntawm cov tsos mob nrog rau cov pob tw tw thiab txhais tes mob taw thiab cov leeg pob txha)

Cov neeg muaj Albright mob raum osteodystrophy yuav muaj cov tsos mob li nram no:

• Cov tshuaj calcium tso rau hauv qab daim tawv nqaij
• Cov kab me me uas tuaj yeem hloov tau rau ntawm cov ntiv tes
• Hloov ntsej muag thiab caj dab luv
• Luv tes ua pob txha, tshwj xeeb tshaj yog cov pob txha hauv qab 4 ntiv tes
• Qhov siab luv

Kev kuaj ntshav yuav ua los ntsuas cov calcium, phosphorus, thiab PTH. Koj yuav tsum tau kuaj cov zis.

Lwm yam kev ntsuam xyuas yuav suav nrog:

• Kev tshuaj ntsuam caj ces
• Lub taub hau MRI lossis CT scan ntawm lub paj hlwb

Koj tus neeg saib xyuas kev noj qab haus huv yuav qhia cov tshuaj ntxiv calcium thiab vitamin D kom muaj cov tshuaj calcium kom zoo. Yog tias cov ntshav phosphate theem siab, koj yuav tsum tau ua raws li cov zaub mov muaj phosphorus tsawg lossis noj cov tshuaj hu ua phosphate binders (xws li calcium carbonate lossis calcium acetate). Txoj kev kho yog feem ntau tas sim neej.

Kev noj cov ntshav calcium nyob hauv PHP feem ntau me dua li lwm cov hypoparathyroidism, tab sis qhov mob hnyav ntawm cov tsos mob tuaj yeem sib txawv ntawm cov neeg sib txawv.

Cov neeg uas muaj hom 1a PHP feem ntau yuav muaj lwm cov teeb meem endocrine system (xws li hypothyroidism thiab hypogonadism).

PHP tuaj yeem txuas nrog lwm cov teeb meem hormone, ua rau:

• Tsawg tsav txiv neej
• Kev loj hlob qeeb kev sib deev
• Kev siv hluav taws xob tsawg
• Qhov hnyav nce

Hu rau koj tus kws kho mob yog tias koj lossis koj tus menyuam muaj cov tsos mob ntawm cov calcium uas qis los yog pseudohypoparathyroidism.

Albright keeb kwm osteodystrophy; Hom 1A thiab 1B pseudohypoparathyroidism; PHP

• Cov qog endocrine
• Parathyroid qog

Bastepe M, Juppner H. Pseudohypoparathyroidism, Albright cov kab mob txha caj qaum, thiab nce qib osseous heteroplasia: mob los ntawm inactivating GNAS kev hloov pauv. Hauv: Jameson JL, De Groot LJ, de Kretser DM, li al, eds. Endocrinology: Cov Neeg Loj thiab PediatricCov. 7 tus ed. Philadelphia, PA: Elsevier Saunders; 2016: tshooj 66.

Doyle DA. Pseudohypoparathyroidism (Albright cov kab mob txha caj qaum osteodystrophy). Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 590.

Thakker RV. Parathyroid qog, hypercalcemia thiab hypocalcemia. Hauv: Goldman L, Schafer AI, eds. Goldman-Cecil TshuajCov. 26th ed. Philadelphia, PA: Elsevier; 2020: cha 232.