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Autosomal Recessive Polycystic raum Kab Mob: Txhim kho lub raum ua haujlwm

Bettina M. Bosch et al

Cistanchedeserticolativ thaivmob raum

Ib tug hluas nkauj uas muaj tus kab mob polycystic raum mob hnyav tau nce ntau hauv glomerular pom tus nqi tshaj li 3 xyoos uas qhia tau hais tias kev ceev faj yuav tsum tau lees paub txog kev kuaj mob.

Peb nthuav qhia cov ntaub ntawv ntawm ib tug hluas nkauj Turkish uas muaj hnub nyoog 3- xyoo nrogAutosomal Recessive Polycystic raum Kab Mob (ARPKD). After a pregnancy without medical follow-up, the neonate presented with oliguria, grossly distended ab[1]domen, and severe pulmonary hypoplasia, necessitating artificial ventilation for 21 days. Ultrasonography showed enlarged kidneys (volume >85 ml, >97th feem pua), thiab cov yam ntxwv sonographic ntawm ARPKD (cystic deformation, ' ntsev thiab kua txob' duab). Qhov tsis muaj kab mob raum hauv tsev neeg (niam txiv lub raum ultrasonographically ib txwm), yog nyob rau hauv txoj kab nrog kev kuaj mob ntawm ARPKD (consanguinity tsis pom zoo los ntawm niam txiv). Thaum muaj hnub nyoog 1 hlis, ntshav creatinine yog 2.0 mg/dl, thiab glomerular filtration rate (GFR) 11 ml/min ib 1.73m.² (as estimated by the Schwartz formula; Fig. 1). Urinary output exceeded 2 ml/kg per h by the age of 4 weeks and remained normal. Hypertension was treated with nifedipine, propranolol, furosemide, and captopril. After discharge at the age of 4 months, the girl was readmitted almost monthly because of severe vomiting and diarrhea, causing failure to thrive and growth retardation in spite of percutaneous endoscopic gastrostomy (PEG) performed at the age of 14 months (Fig. 1). As conservative treatment could not control the failure to thrive, peritoneal dialysis was initiated at the age of 17 months (serum creatinine >3. 0 mg/dl, GFR 16 ml/min ib 1.73 m²; Daim duab 1). Qhov hnyav nce tau tom qab pib kho lub raum (1 kg hauv 1 xyoos). Thaum muaj hnub nyoog 29 lub hlis, lub dialysis catheter tau muab tshem tawm vim muaj cov kab mob tsis tu ncua thiab kab mob peritonitis. Thaum muaj hnub nyoog 30 lub hlis, GFR yog 24 ml / min ib 1.73m², 4 lub hlis tom qab 31 ml / min rau 1.73m²(Daim duab 1). GFR tseem nyob ruaj khov rau lub sijhawm 1-xyoo (28–31 ml / min ib 1.73m²creatinine 1.6-1.9 mg / dl; Daim duab 1). Thaum rov qab mus ntsib, tus ntxhais tau zoo nyob rau hauv kev kho mob. Nws muaj lub cev loj hlob nrog rau qhov feem pua ​​3rd (pib ntawm kev kho tib neeg txoj kev loj hlob hormone thaum muaj hnub nyoog 33 lub hlis; Fig. 1).

ARPKD (Autosomal Recessive Polycystic raum Kab Mob)yog ib hom kab mob cystic hereditary uas muaj kwv yees li ntawm 1:10.000 txog 1:55.000, ib txwm muaj ob lub raum thiab lub siab mus rau qhov sib txawv [6]. Cov chav kho mob tuaj yeem mob hnyav heev thiab qee tus neeg mob no tuag hauv utero lossis tom qab yug menyuam. Txawm li cas los xij, rau cov menyuam yaus uas muaj sia nyob rau lub sijhawm yug menyuam, qhov kev kuaj mob tsim nyog nrog kev pom zoo txog kev muaj sia nyob thiab lub raum ua haujlwm tau pom [2, 4, 6]. Cov yam ntxwv kho mob ntawm ARPKD (Autosomal Recessive Polycystic raum Kab Mob)yog mob raum tsis ua hauj lwm, hyper[1] nro, kev loj hlob retardation, urinary tract infections, thiab portal hypertension [2, 4, 6]. Kev kuaj mob ntawm ARPKD(Autosomal Recessive Polycystic raum Kab Mob)yog raws li kev tshawb pom ntawm ultrasound, tsev neeg keeb kwm, thiab cov cim qhia ntawm hepatic fibrosis [1, 3]. Txawm li cas los xij, daim siab pathology tsis yog yuav tsum tau kuaj xyuas ARPKD(Autosomal Recessive Polycystic raum Kab Mob)[6]. Lub raum polycystic thiab kab mob siab 1 (PKHD1) gene maps rau chromosome 6p21.1-p12 thiab encodes rau cov protein hu ua polyductin [3, 5]. Kev hloov pauv ntawm PKHD1 zoo li yog lub luag haujlwm rau daim ntawv hnyav ntawm ARPKD(Autosomal Recessive Polycystic raum Kab Mob) [3].

Hauv qhov xwm txheej tam sim no, tus me nyuam pib pom lub raum loj thiab pulmonary tshwm sim, uas zoo li cuam tshuam txog qhov tsis zoo. Txawm li cas los xij, tom qab rov qab tso zis tso zis thiab pulmonary muaj nuj nqi nws tuaj yeem tawm hauv tsev. Cov teeb meem ntawm plab hnyuv hauv lub hlis tom ntej no feem ntau tshwm sim los ntawm uraemia, tejzaum nws tshwm sim los ntawm qhov loj ntawm lub raum.

Qhov tshwm sim tsis ua tiav kom muaj kev vam meej tau nthuav tawm qhov pom tseeb hauv kev kho mob kom pib kho mob ntshav qab zib. Kuj ceeb tias, tom qab cuam tshuam kev kho mob ntshav qab zib vim yog kab mob catheter, nws qhov chaw kho mob thiab lub raum ua haujlwm tau ruaj khov. Raws li Cole et al. [1], creatinine clearance qhov tseem ceeb ntawm feem ntau cov neeg mob nrog ARPKD(Autosomal Recessive Polycystic raum Kab Mob)qhia kev ruaj khov lossis nce qib hauv thawj 36 lub hlis ntawm lub neej,

thiab nyob rau tib yam li hauv peb tus neeg mob (30-40 ml / min ib 1.73m2). Txhawm rau kwv yees creatinine tshem tawm, suav ntawm GFR nrog Schwartz mis yog suav tias yog txoj hauv kev raug, tshwj xeeb tshaj yog rau cov menyuam mos [6]. Hauv qhov no, kev kho mob ntshav qab zib yog ib qho txiaj ntsig zoo los cuam tshuam cov tsos mob uraemic, thaum kev tswj hwm kev tswj hwm tau ua pov thawj tias tsis txaus.

Cov menyuam yaus uas muaj kev kuaj mob perinatal ntawm ARPKD(Autosomal Recessive Polycystic raum Kab Mob)thiab Potter ib ntus tej zaum yuav muaj qhov tshwm sim tsis zoo. Txawm li cas los xij, cov menyuam yaus uas muaj sia nyob rau lub sijhawm me nyuam mos zoo li qhia tau qhov txiaj ntsig kev kho mob tsim nyog xws li peb tus neeg mob.

Ua ke, kev kwv yees yuav tsum tau ua nrog ceev faj, txawm tias cov menyuam yaus uas tuaj nrog Potter sib lawv liag.

Los ntawm: 'Autosomal recessive polycystic raum kab mob txhim kho lub raum ua haujlwm' los ntawm Bettina M. Bosch et al

----Eur J Pediatr (2003) 162: 438–439 DOI 10.1007/s00431-003-1189-8

Cov ntaub ntawv

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