Congenital nephrotic syndrome

Congenital nephrotic syndrome yog qhov tsis txaus ntseeg uas yog kis los ntawm cov tsev neeg uas tus menyuam muaj protein nyob rau hauv cov zis thiab o ntawm lub cev.

Congenital nephrotic syndrome yog qhov mob caj dab autosomal tsis meej. Qhov no txhais tau hais tias txhua tus niam txiv yuav tsum theej cov ntawv theej ntawm cov gene tsis xwm yeem kom tus menyuam muaj tus kabmob.

Txawm hais tias yug los txhais tau tias tam sim no txij thaum yug los, nrog kev mob qog nqaij hlav ntshav sib deev, cov tsos mob tshwm sim hauv thawj 3 lub hlis ntawm lub neej.

Congenital nephrotic syndrome yog yam mob uas tsis tshua pom muaj nephrotic syndrome.

Tus mob Nifaisrotic yog ib pawg kev mob tshwm sim uas suav nrog:

• Protein hauv lub zis
• Cov ntshav muaj protein tsawg hauv cov ntshav
• Cov ntshav siab ntau ntau
• Siab triglyceride ntau ntau
• O o

Cov menyuam yaus uas muaj qhov tsis zoo no muaj cov protein tsis zoo hu ua nephrin. Lub raum lim (glomeruli) xav tau cov protein no ua haujlwm zoo li qub.

Cov tsos mob ntawm tus mob nephrotic suav nrog:

• Hnoos
• Kev tso zis tsawg ntxiv
• Ua npuas ncauj tsos ntawm cov zis
• Tus me nyuam yug hnyav
• Tsis qab los noj mov
• O (tag nrho lub cev)

Ib qho ua ultrasound rau ntawm leej niam cev xeeb tub yuav ua rau pom qhov nqaij loj-dua-li ib txwm. Tus me nyuam yog qhov khoom noj uas muaj lub cev xeeb tub thaum pub mis rau tus menyuam noj kom loj hlob.

Cov poj niam cev xeeb tub yuav tau kuaj mob thaum cev xeeb tub los kuaj xyuas tus mob no. Qhov ntsuam xyuas tau zoo rau qib siab-dua li ib txwm muaj alpha-fetoprotein hauv cov piv txwv ntawm cov kua dej amniotic. Kev tshuaj ntsuam txog caj ces ces tau siv los kom paub tseeb tias kev kuaj mob yog tias kuaj tau zoo.

Tom qab yug los, tus me nyuam yuav pom cov tsos mob ntawm kev tuav cia hnyav thiab o. Tus kws kho mob yuav hnov ​​lub suab tsis zoo thaum mloog tus menyuam lub siab thiab lub ntsws lub ntsws nrog lub taub hau ntsia. Ntshav siab yuav ua tau siab. Tej zaum yuav muaj cov cim qhia ntawm kev tsis zoo.

Qhov mob txeeb zig yuav ua rau pom cov rog thiab cov protein ntau hauv cov zis. Tas nrho cov protein nyob hauv cov ntshav yuav qis.

Ntxov ntxov thiab nrhiav kev kho mob yog qhov xav tau los tswj tus mob no.

Kev kho mob yuav suav nrog:

• Tshuaj tua kab mob los tswj kab mob sib kis
• Cov tshuaj ntshav tiv thaiv kab mob hu ua angiotensin-hloov enzyme (ACE) inhibitors thiab angiotensin receptor blockers (ARBs) kom txo qis cov protein khiav mus rau hauv cov zis
• Diuretics ("dej tshuaj") kom tshem tawm cov kua dej ntau dhau
• NSAIDs, xws li indomethacin, txhawm rau txo qis cov protein tshwm sim hauv cov zis

Yuav tsum haus dej ntau kom pab tswj qhov o.

Tus kws kho mob yuav qhia kom tshem lub raum kom tsis txhob muaj protein ntau. Qhov no tuaj yeem ua raws li lim ntshav los yog lub raum hloov ntshav.

Qhov kev tsis zoo no feem ntau ua rau tus kab mob, tsis txaus, thiab lub raum tsis ua haujlwm. Nws tuaj yeem ua rau tuag txog thaum muaj hnub nyoog 5 xyoos, thiab ntau tus menyuam tuag nyob hauv thawj xyoos. Congenital nephrotic syndrome tuaj yeem tswj kav qee kis nrog kev kho mob thaum ntxov thiab mob hnyav, suav nrog kev kho lub raum thaum ntxov.

Teeb meem ntawm tus mob no suav nrog:

• Mob raum tsis ua hauj lwm
• Cov ntshav txhaws
• Mob raum tsis ua hauj lwm
• Mob raum-theem kab mob
• Nquag, muaj mob hnyav
• Kev noj haus tsis txaus thiab lwm yam kab mob

Hu rau koj tus kws kho mob yog tias koj tus menyuam muaj tsos mob ntawm lub plab mob nephrotic syndrome.

Cov leeg ntshav siab - congenital

• Poj niam tso zis tso zis
• Cov txiv neej tso zis

Erkan E. Nephrotic syndrome. 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 545.

Schlöndorff J, Pollak MR. Inherited mob ntawm lub glomerulus. Hauv: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner thiab Rector's RaumCov. 11th ed. Philadelphia, PA: Elsevier; 2020: cha 43.

Vogt BA, Springel T. Lub raum thiab txoj hlab zis ntawm lub qhov leeg. Hauv: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff thiab Martin's Neonatal-Perinatal Tshuaj: Cov kab mob ntawm lub plab thiab menyuam mosCov. 11th ed. Philadelphia, PA: Elsevier; 2020: cha 93.