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The Apgar scores were 1 at 1 min and 3 at 5 min. The initial blood pressure was 51/26 mmHg. The anterior fontanelle was wide and the sagittal sutures revealed wide gaps. The baby required assisted ventilation immediately after birth due to respiratory distress, and inotropes were started at 1 h after birth due to hypotension. The first urination was observed at 6 h after birth. Kidney ultrasonography revealed both normal-sized kidneys with increased parenchymal echogenicity. The patient developed a pneumoperitoneum due to ileal perforation at 7 h after birth and he underwent emergency ileostomy. Hypotension was aggravated after surgery and the patient responded poorly to plasma expanders and inotropes. The baby became anuric with gradual worsening of renal function. While urination began GSK-3 inhibitor to increase since Day 4, hypotension persisted and was even aggravated by diuresis. Since Day 25, his blood pressure became relatively stable, and inotropes were tapered off for 2 weeks. The peak serum creatinine level was 2.2 mg/dL (194 ��mol/L) on Day 6. Laboratory Quisinostat research buy tests at the age of 14 days showed that the plasma renin activity was 22.3 ng/mL/h [6 ng/L/s, normal, ankyrin revealed novel compound heterozygous mutations, c.G776A [p.Arg(CGC)259His(GAG)] inherited from the mother and c.1454delC [p.Pro(CCT)485Leu(CTT)fs] inherited from the mother. At the age of 1 month, oral fludrocortisone treatment (0.1 mg/day) was started to correct intermittent hyponatremia and hypokalemia. The baby was discharged at the age of 4 months with a serum creatinine level of 0.6 mg/dL (53 umol/L). The patient is currently 2 years old with normal blood pressure and serum electrolyte levels and mild impairment of renal function [serum creatinine 0.5 mg/dL (44 ��mol/L) and estimated glomerular filtration rate 69 mL/min/1.73m2 (1.15 mL/s/1.73m2)]. Hypocalvaria (skull ossification defect) improved spontaneously. His weight and height are below the third percentile for his age, but his motor and cognitive functions are normal. Discussion To date, five cases surviving the neonatal period of AR-RTD have been reported [5�C8]. (Table 1) The genotypes and phenotypes were variable among the cases. All of the patients except Patient 3 had one or more affected siblings, all of which died during the perinatal period. Although all of the patients subsequently developed chronic kidney disease, their psychomotor and cognitive development was normal. Table 1.