Resolution of refractory hypotension and anuria in a premature newborn with loss‐of‐function of ACE

Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature

“…Autosomal‐recessive renal tubular dysgenesis is a rare genetic disorder that was previously thought to be an almost universally lethal disease. However, there have been several case reports that describe patients with survival past the neonatal period (Bacchetta et al, 2007 ; Danilov et al, 2010 ; de Oliveira et al, 2011 ; Gribouval et al, 2005 , 2012 ; Hibino et al, 2015 ; Kim et al, 2012 ; Richer et al, 2015 ; Ruf et al, 2018 ; Schreiber et al, 2010 ; Uematsu et al, 2006 , 2009 ; Zingg‐Schenk et al, 2008 ). To our knowledge, this is the first family with two affected siblings with ACE mutations that have survived the critical neonatal period, and we have summarized the previously reported 18 cases with long‐term survival.…”

“…Of the three patients to receive vasopressin, our patient was the only to receive both fludrocortisone and vasopressin the neonatal period, and was the only one that did not require a prolonged wean of vasopressin due to recalcitrant hypotension and oliguria. She was weaned off vasopressin on day of life four, whereas both previously reported patients had rapid deteriorations of blood pressure and urine output with weaning attempts (weans successfully completed over the course of 3 weeks and 9 weeks in previous patients) (Richer et al, 2015 ; Ruf et al, 2018 ). We postulate that replacing aldosterone at this earlier time may have supported blood pressure enough to enable a more rapid and successful wean of the vasopressin, though further cases are needed to corroborate this hypothesis.…”

“…Since the initial characterization, over 100 sporadic or familial cases of AR‐RTD have been described in the literature (Allanson et al, 1992 ; Gribouval et al, 2012 ). While the severity of AR‐RTD was initially believed to invariably result in perinatal or neonatal death due to anuria and respiratory failure, in recent years, more and more patients are being described that survive past the critical neonatal period (Bacchetta et al, 2007 ; Danilov et al, 2010 ; Demirgan et al, 2021 ; de Oliveira et al, 2011 ; Gribouval et al, 2005 , 2012 ; Hibino et al, 2015 ; Kim et al, 2012 ; Richer et al, 2015 ; Ruf et al, 2018 ; Schreiber et al, 2010 ; Uematsu et al, 2006 , 2009 ; Zingg‐Schenk et al, 2008 ). Historically, treatment has been largely supportive and includes intubation and ventilation for respiratory failure, intravenous fluid and inotrope/vasopressor support for hypotension, and dialysis for anuria.…”

“…Historically, treatment has been largely supportive and includes intubation and ventilation for respiratory failure, intravenous fluid and inotrope/vasopressor support for hypotension, and dialysis for anuria. More recently, vasopressin has been used in the neonatal period to circumvent a defect component of the renin‐angiotensin system in these patients (Richer et al, 2015 ; Ruf et al, 2018 ).…”

Cardiovascular aspects of the (pro)renin receptor: Function and significance

“…Although mice with deletion of ACE are surviving with extremely reduced BP and severe renal disease that cannot effectively concentrate urine, 126,127 truncating alterations in ACE results in fetal demise during gestation or neonatal death in the first days of life due to the Potter sequence. 128,129 While embryonic PRR ablation or adult mice with PRR deletion caused lethality, 130 as a result of V-ATPase dysfunction and impaired autophagy. Indeed, PRR also works as an accessory subunit of the vacuolar H + -ATPase, supported by the co-localization of PRR with the V-ATPase and the binding of PRR to the V-ATPase subunit Ac45 (also known as ATP6AP1, ATPase H + transporting accessory protein 1).…”