I-Pseudohypoparathyroidism

I-Pseudohypoparathyroidism (PHP) yisifo sofuzo lapho umzimba wehluleka ukuphendula kwi-hormone ye-parathyroid.

Isimo esihlobene ne-hypoparathyroidism, lapho umzimba ungenzi khona i-hormone eyanele ye-parathyroid.

Izindlala ze-parathyroid zikhiqiza i-hormone ye-parathyroid (PTH). I-PTH isiza ukulawula amazinga e-calcium, i-phosphorus, ne-vitamin D egazini futhi ibalulekile empilweni yethambo.

Uma une-PHP, umzimba wakho ukhiqiza inani elifanele le-PTH, kepha "uyamelana" nomphumela wawo. Lokhu kubangela amazinga we-calcium ephansi namazinga aphezulu e-phosphate egazi.

I-PHP ibangelwa izakhi zofuzo ezingajwayelekile. Kunezinhlobo ezahlukahlukene ze-PHP. Zonke izinhlobo azivamile futhi zivame ukutholakala ebuntwaneni.

• Uhlobo lwe-1a lutholwa ngofuzo ngendlela evelele ye-autosomal. Lokho kusho ukuthi umzali munye kuphela odinga ukukunikeza ufuzo olungalungile ukuze ube nalesi simo. Kubizwa nangokuthi i-Albright ifa le-osteodystrophy. Isimo sibanga isiqu esifushane, ubuso obuyindilinga, ukukhuluphala, ukubambezeleka kokukhula, namathambo ezandla amafushane. Izimpawu zincike ekutheni uzuze ifa likanyoko noma kubaba wakho.
• Uhlobo 1b lubandakanya ukumelana ne-PTH kuphela ezinso. Okuncane kuyaziwa ngohlobo 1b kunohlobo 1a. I-calcium esegazini iphansi, kepha azikho ezinye izici zesifo se-Albright esivela ku-osteodystrophy.
• Uhlobo lwe-2 lubandakanya ne-calcium ephansi yegazi namazinga aphezulu e-phosphate egazi. Abantu abanaleli fomu abanazo izici zomzimba ezivamile kubantu abane-Type 1a. Ukungajwayelekile kofuzo okubangela ukuthi kungaziwa. Ihlukile kuhlobo 1b ngendlela izinso ezisabela ngayo emazingeni aphezulu e-PTH.

Izimpawu zihlobene nezinga eliphansi le-calcium futhi zifaka:

• Isifo senkwethu
• Izinkinga zamazinyo
• Ubudikadika
• Ukuquleka
• I-Tetany (iqoqo lezimpawu ezibandakanya ukugogeka kwemisipha kanye nezikhwebu zezandla nezinyawo kanye nokuqaqamba kwemisipha)

Abantu abane-Albright yefa osteodystrophy bangaba nalezi zimpawu ezilandelayo:

• Ukufakwa kwe-calcium ngaphansi kwesikhumba
• Ama-dimples angabuyisela ama-knuckles eminwe ethintekile
• Ubuso obuzungezile nentamo emfushane
• Amathambo esandla amafushane, ikakhulukazi ithambo elingaphansi komunwe wesi-4
• Ukuphakama okufushane

Ukuhlolwa kwegazi kuzokwenziwa ukuhlola amazinga e-calcium, i-phosphorus, ne-PTH. Ungadinga futhi ukuhlolwa komchamo.

Ezinye izivivinyo zingafaka:

• Ukuhlolwa kofuzo
• Iskena se-MRI noma se-CT sobuchopho

Umhlinzeki wakho wokunakekelwa kwezempilo uzoncoma izithasiselo ze-calcium nevithamini D ukugcina izinga le-calcium elifanele. Uma izinga le-phosphate yegazi liphezulu, kungadingeka ukuthi ulandele ukudla okuphansi kwe-phosphorus noma uthathe imithi ebizwa nge-phosphate binders (efana ne-calcium carbonate noma i-calcium acetate). Ukwelashwa kuvame ukuba impilo yonke.

I-calcium ephansi yegazi ku-PHP imvamisa imnene kunezinye izinhlobo ze-hypoparathyroidism, kepha ubunzima bezimpawu bungahluka phakathi kwabantu abahlukene.

Abantu abane-type 1a PHP kungenzeka kakhulu ukuthi babe nezinye izinkinga zesistimu ye-endocrine (njenge-hypothyroidism ne-hypogonadism).

I-PHP ingahle ixhumeke kwezinye izinkinga zehomoni, okuholele ku:

• Ukushayela ocansini okuphansi
• Ukukhula kancane kwezocansi
• Amazinga wamandla aphansi
• Ukuzuza kwesisindo

Xhumana nomhlinzeki wakho uma wena noma ingane yakho unezimpawu ezingeni eliphansi le-calcium noma i-pseudohypoparathyroidism.

I-Albright i-osteodystrophy eyifa; Izinhlobo 1A no-1B pseudohypoparathyroidism; I-PHP

• Izindlala ze-Endocrine
• Nezindlala Parathyroid

I-Bastepe M, i-Juppner H. Pseudohypoparathyroidism, i-Albright's hereditary osteodystrophy, ne-osseous heteroplasia eqhubekayo: ukuphazamiseka okubangelwa ukungasebenzi kwezinguquko ze-GNAS. Ku: Jameson JL, De Groot LJ, de Kretser DM, et al, abahleli. I-Endocrinology: Eyabantu Abadala Neyengane. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 66.

UDoyle DA. I-Pseudohypoparathyroidism (i-Albright ifa le-osteodystrophy). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 590.

I-Thakker RV. Izindlala ze-parathyroid, i-hypercalcemia ne-hypocalcemia. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 232.