A Case Report of Situs Invertus Totalis and Polycystic Kidney Disease in a Newborn




McCullough, Jason


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Background: Situs Inversus Totalis is a rare disorder in which the internal organs are reflected laterally. The prevalence of Situs Inversus Totalis is 1 in 10,000 live births. Children born with Situs Inversus Totalis can go on to live normal lives if no other conditions are present. Polycystic Kidney Disease (PKD) has multiple patterns of inheritance. PKD has been reported to follow autosomal dominant, autosomal recessive, and X-linked patterns of inheritance. Autosomal Recessive Polycystic Kidney Disease (ARPKD), which used to be called infantile PKD, has a prevalence of 1 in 20,000 individuals. ARPKD has a low life expectancy with 1 in 3 infants dying within the first month of life due to breathing problems, and 9 out of 10 infants who make it past the first month will die before the age of five. Situs Inversus Totalis and ARPKD are not directly linked, but both been associated to primary ciliary dyskinesia which could lead to both disorders occurring in the same infant. Case Information: A newborn child was diagnosed with Situs Inversus Totalis and ARPKD soon after being delivered. The mother was informed during the pregnancy that there was a risk of some abnormalities during prenatal screenings. Family history was not fully obtained due to the father of the child being a sperm donor. The newborn did not experience any symptoms from the Situs Inversus Totalis, but experienced problems associated with ARPKD, such as underdeveloped lungs. The newborn was monitored in the NICU to ensure symptoms could be treated appropriately. After symptoms had resolved, the mother and child were both discharged and returned home and told to follow routine newborn visits. There are currently no cures for ARKPD, but if the child becomes eligible, a kidney transplant could provide an improvement to the child's condition. Conclusion: Situs Inversus Totalis and ARPKD have been associated with primary ciliary dyskinesia but have not been shown to be directly linked together, but this association could provide insight into the condition of this patient. ARPKD is also linked to mutations in the PHKD1 gene but requires inheritance from both parents to be present. Since ARPKD is found in the infant, it can be inferred that both parents would be carriers if this was the cause, instead of the primary ciliary dyskinesia. As previously mentioned, the father's medical history was not obtained. However, in other families, genetic testing can be conducted to determine risk of certain hereditary diseases such as ARPKD. In cases where genetic testing was not conducted, prenatal screenings can be used to determine if any abnormalities are present. Parents should be aware if certain disorders run in their family and should talk to their physician to see if genetic testing or prenatal screenings are necessary. Treatment options for ARPKD are still being explored but further research can develop solutions to increase life expectancy of newborns diagnosed with ARPKD. Cases like this are rare but could provide more information on causes of ARPKD and Situs Inversus Totalis leading to these new solutions.