Navratilova M.,Detska Klinika FN A LF UK |
Simakova E.,Fingerlanduv Ustav Patologie FN A LF UK |
Podholova M.,Porodnicka A Gynekologicka Klinika FN A LF UK |
Elias P.,Radiologicka Klinika FN A LF UK |
And 3 more authors.
Cesko-Slovenska Pediatrie | Year: 2014
Neonatal hemochromatosis (NH) is a clinical syndrome consisting of severe liver disease accompanied by pathologic siderosis in various extrahepatic tissues. Gestational alloimmune liver disease (GALD) has been established as the cause of fetal liver injury resulting in nearly all cases of NH. The presenting findings of NH are fetal demise during late 2nd and 3rd trimester or, after delivery, signs of liver failure and typically multiple organ dysfunction syndrome with high mortality. Renal tubular dysgenesis (RTD) represents a developmental disorder of fetal kidneys differentiation as a consequence of angiotensinogen deficiency because of evolving fetal liver injury. Oligohydramnion, congenital oligoanuria and refractory hypotension are the leading symptoms of RTD. The coincidence between RTD and NH is well known as the most common renal pathology seen in NH. GALD can be prevented by repetitive intravenous immunoglobulin application during the next pregnancy, starting usually between 14th to 16th postmenstrual weeks. The authors present a case of GALD manifested as severe neonatal hemochromatosis and renal tubular dysgenesis followed by successful treatment of the mother in the next pregnancy resulting in delivery of the healthy offspring.
Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn [Kongenitální deficit surfaktantu v důsledku mutace v genu pro ABCA3 jako příčina fatálního respiračního selhání]
Navratilova M.,Detska Klinika FN a LF UK |
Hornychova H.,Fingerland Uv Ustav Patologie FN a LF UK |
Kokstein Z.,Detska Klinika FN a LF UK |
Maly J.,Detska Klinika FN a LF UK
Cesko-Slovenska Pediatrie | Year: 2013
Inherited disorders of surfactant metabolism present as acute severe respiratory failure in the neonatal period or as chronic respiratory insufficiency in later infancy and childhood. We report the first case of genetically proved surfactant deficiency in term newborn in the Czech Republic leading to lethal respiratory failure. This is also the first proof of these mutations at all. The two heterozygous mutations in ABCA3 gene - in exon 24 M 1227R and in exon 29 Ins1510fs/ter1519 have never been published yet.