Abstract Ref Number = APCP1065
Poster Presentation
Dr Santosh T Soans ,Professor and Head, A J Institute of Medical Sciences, Mangalore , Karnataka Dr Sahana P,Post Graduate , A J Institute of Medical Sciences, Mangalore , Karnataka Dr Ashvij Shriyan, Consultant Neonatologist , A J Hospital and Research Centre, Mangalore , Karnataka
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a late-onset disease caused by mutations in PKD1 or PKD2. 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable from autosomal recessive disease (ARPKD).The clinical spectrum of early-onset ADPKD is especially broad and on rare occasions may be difficult to distinguish ADPKD from ARPKD especially in newborns.Here we report a case which remarkably had an early onset even though being later identified as ADPKD. CASE REPORT: A Male babyborn to Primigravida mother via LSCS (Indication:Oligohydramnios) presented with respiratory distress. Antenatal ultrasound showed bilateral enlarged kidneys which was postnatally confirmed to be hyperechoic kidneys with multiple tiny cysts in the renal parenchyma – suggestive of ARPKD (Potter type 1 Renal Cystic Disease).At discharge had normal renal function. Follow up at 1 month; baby was noted to have developed Systemic Hypertension. Repeat Ultrasound showed Polycystic kidney disease with multiple cysts in liver. Screening Ultrasound of the Father was normal. Mothernoted to have Bilateral enlarged kidneys with small medullary cysts.This made us reconsider our diagnosis of ARPKD.Since karyotyping was normal, gene study was done which reported PKD 1 mutation,thus changing the diagnosis to ADPKD. DISCUSSION : Only few attending paediatricians know about severe disease expression of early-onset ADPKD and the considerable increased recurrence risk in affected families. In the most severe cases, ADPKD may present with significant neonatal and perinatal mortality and morbidity, a clinical course more characteristic of ARPKD. Additional mutations in PKD genes, including HNF-1β,likely aggravate the phenotype.HNF1β mutation analysis in these patients shows a novel missense mutation categorized as “highlylikely pathogenic.” Segregation analysis revealed this mutation to be of maternal origin.This aspect of early and severe disease manifestation in ADPKD deserves increased attention.
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