Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods. We report a 37+3 -gestational-week neonate presenting with fatal autosomal recessive polycystic kidney disease who died at 28 hours of life from severe respiratory failure. The familial history is significant because a previous sibling died in utero at 24+2 weeks of gestational age and was diagnosed with polycystic kidney disease based on prenatal ultrasonography and autopsy. Our patient's autopsy revealed findings compatible with polycystic kidney disease. In addition, a PKHD1 gene study of peripheral blood leukocytes identified the compound heterozygote mutation c.274C>T(p.Arg92Trp), as well as the novel heterozygous nonsense mutation c.2770C>T(p.Gln924*).
Autopsy ; Codon, Nonsense ; Gestational Age ; Heterozygote ; Humans ; Infant, Newborn* ; Leukocytes ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Recessive* ; Respiratory Insufficiency ; Siblings ; Ultrasonography, Prenatal

PURPOSE: Death is an important problem for physicians and parents in neonatal intensive care unit. This study was intended to evaluate the mortality rate, causes of death, and the change of mortality rate by year for infants admitted to the neonatal intensive care unit. METHODS: We retrospectively surveyed the medical records of the infants who were admitted to the neonatal intensive care unit at Asan Medical Center and who died before discharge between 1998 and 2007. Gestational age, birth weight, gender, time to death and the underlying diseases related to the causes of infant deaths and obtained from the medical records and analyzed according to year. RESULTS: A total of 6,289 infants were admitted and 264 infants died during the study period. The overall mortality rate was 4.2%. For very low and extremely low birth weight infants, the mortality rate was 10.6% and 21.4%, respectively. There was no significant change in the mortality rate during the study period. Prematurity related complications and congenital anomalies were the conditions most frequently associated with death in the neonatal intensive care unit. of the infant deaths 37.1% occurred within the first week of life. CONCLUSION: Even though a remarkable improvement in neonatal intensive care has been achieved in recent years, the overall mortality rate has not changed. To reduce the mortality rate, it is important to control sepsis and prevent premature births. The first postnatal week is a critical period for deaths in the neonatal intensive care unit.
Birth Weight ; Cause of Death ; Critical Period (Psychology) ; Gestational Age ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Intensive Care, Neonatal ; Medical Records ; Parents ; Premature Birth ; Retrospective Studies ; Sepsis