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

Richer, Julie; Daoud, Hussein; Geier, Pavel; Jarinova, Olga; Carson, Nancy; Feberova, Jana; Fadel, Nadya Ben; Unrau, Jennifer; Bareke, Eric; Khatchadourian, Karine; Bulman, Dennis E.; Majewski, Jacek; Boycott, Kym M.; Dyment, David A.

doi:10.1002/ajmg.a.37067

Cited by 12 publications

(22 citation statements)

References 18 publications

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“…Only one child is reported so far that did not need peritoneal dialysis. Richer et al report a preterm infant (26 + 5 gestational age) developing adequate blood pressure and diuresis when started on continuous vasopressin infusion on day 8 of life [8]. Our patient is only the second one described without renal replacement therapy in the neonatal period and also the second one having received vasopressin.…”

Section: Discussionmentioning

confidence: 71%

Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis– a case report

Ruf

Wirbelauer

Beissert

et al. 2018

matern health, neonatol and perinatol

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BackgroundOligohydramnios sequence can be caused by renal tubular dysgenesis (RTD), a rare condition resulting in pulmonary and renal morbidity. Besides typical features of Potter-sequence, the infants present with severe arterial hypotension and anuria as main symptoms. Establishing an adequate arterial blood pressure and sufficient renal perfusion is crucial for the survival of these infants.Case presentationWe describe a male preterm infant of 34 + 0 weeks of gestation. Prenatally oligohydramnios of unknown cause was detected. After uneventful delivery and good adaptation the infant developed respiratory distress due to a spontaneous right-sided pneumothorax and required thoracocentesis and placement of a chest tube; he showed no major respiratory concerns thereafter and needed only minimal ventilatory support. Echocardiography revealed no abnormalities, especially no pulmonary hypertension. However, he suffered from severe arterial hypotension and anuria refractory to catecholamine therapy (dobutamine, epinephrine and noradrenaline). After 36 h of life, vasopressin therapy was initiated resulting in an almost immediate stabilization of arterial blood pressure and subsequent onset of diuresis. Therapy with vasopressin was necessary for three weeks to maintain adequate arterial blood pressure levels and diuresis. Sepsis and adrenal insufficiency were ruled out as inflammation markers, microbiological tests and cortisol level were normal. At two weeks of age, our patient developed electrolyte disturbances which were successfully treated with fludrocortisone. He did not need renal replacement therapy. Genetic analyses revealed a novel compound hyterozygous mutation of RTD. Now 17 months of age, the patient is in clinically stable condition with treatment of fludrocortisone and sodium bicarbonate. He suffers from stage 2 chronic kidney disease; blood pressure, motor and cognitive development are normal.ConclusionsRTD is a rare cause of oligohydramnios sequence. Next to pulmonary hypoplasia, severe arterial hypotension is responsible for poor survival. We present the only second surviving infant with RTD, who did not require renal replacement therapy during the neonatal period. It can be speculated whether the use of vasopressin prevents renal replacement therapy as vasopressin increases urinary output by improving renal blood flow.

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Section: Discussionmentioning

confidence: 71%

Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis– a case report

Ruf

Wirbelauer

Beissert

et al. 2018

matern health, neonatol and perinatol

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“…For the patient with ACE mutations (case 2), the molecular diagnosis guided subsequent assess ment of aldosterone and the initiation of fludro cortisone, which ultimately resulted in improved kidney function. 13 In the other patient (case 19), diagnosis of a de novo WT1 mutation altered plans for surgical management. Both kidneys are to be removed during kidney transplant, to reduce the substantial risk of Wilms tumour should the kidneys not be removed.…”

Section: Resultsmentioning

confidence: 99%

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Daoud

Luco

et al. 2016

CMAJ

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Results: Of 20 newborns studied, 8 received a diagnosis on the basis of next-generation sequencing (diagnostic rate 40%). The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myo pathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.Interpretation: This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU. AbstractSee also www.cmaj.ca/lookup/doi/10.1503/cmaj.160490Research CMAJ, August 9, 2016, 188(11) E255and clinicians providing care. 7 The inability to arrive at a timely and efficient diagnosis repre sents a substantial lost opportunity, as a diagno sis can limit or even halt further invasive, and at times futile, investigations for the neonate. Importantly, an accurate diagnosis informs prog nosis and may guide management decisions.The advent of nextgeneration sequencing has greatly advanced the ability to rapidly identify the novel genes responsible for disease. 8 Whole exome sequencing (sequencing of the coding portion of the genome) is beginning to be used on a clinical basis in tertiary care centres.9,10 In these initial clinical cohort studies, a molecular diagnosis was provided by wholeexome sequencing for about 25% of families. The pro portion increased to 31% when the patient's par ents were also analyzed. 9 Another study used retro spective wholegenome sequencing to make a diagnosis in 57% of 35 children from the inten sive care setting. 11Although wholeexome and wholegenome sequencing are powerful tools, important condi tions are required for translation of these meth ods to the clinic or hospital setting. The avail ability of highthroughput sequencers, complex and costly infrastructure, and personnel with bioinformatics expertise are prerequisites. These resources may not be broadly available within some health care systems, and other strategies may be more relevant and effective.Another attractive alternative is analysis based on nextgeneration sequencing that focuses only on the clinically relevant genes with known associated clinical phenotypes. 12This strategy offers several advantages over wholeexome or wholegenome sequencinginterpretation of variants may be more straight forward, a higher depth of coverage can be read ily achieved, and less infrastructure and fewer personnel are required -all of which contribute to a more rapid return of results.For this pilot study, we evaluated the perform ance of a targeted nextgeneration sequencing panel that included 4813 "diseaserelevant" genes in a cohort of newborns with rare disease in the NICU and assessed the effectiveness of this method to accurately diagnose these critically ill babies. Methods ParticipantsWe recruited patients for this pilot study between January and December 2014 from the NICUs of 2 regional hospi...

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“…Enriched libraries from patient 1 and his parents (trio approach) were pooled and sequenced on the MiSeq (Illumina). The detailed protocol has been previously reported [ 22 ]. RT-PCR and Sanger sequencing were performed by standard protocols using primers targeting DYRK1A (NM_001396.3) coding exon-5 (Ex5F:5′-TTGAGCTCATGAACAAACATGAC-3′) and coding exon-8 (Ex8R:5′-GAGCAGGTGGAATACCCAGA-3′) on RNA extracted from patient and control lymphoblast cell lines.…”

Section: Methodsmentioning

confidence: 99%

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

et al. 2016

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BackgroundChromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features. Here we present 2 individuals with novel mutations in DYRK1A, and a review of the cases reported to date.Case presentationBoth individuals presented with the well-known characteristic features, as well as rarer anomalies seen in a minority of patients. Patient 1 presented shortly after birth with an enlarged cisterna magna, distal contractures, and distinctive facies that included bitemporal narrowing and deep set eyes. A de novo splice site mutation in DYRK1A [c.951 + 4_951 + 7delAGTA; p.Val222Aspfs*22] was identified by next generation sequencing. Patient 2 presented at 7 months of age with microcephaly and dysmorphic features. She went several years without a diagnosis until a de novo DYRK1A nonsense mutation [c.787C>T; p.(Arg263*)] was identified at age 12. These individuals, and the 52 cases reviewed from the literature, show the characteristic features of the DYRK1A-related syndrome including global developmental delay, ID, microcephaly, feeding difficulties, and the facial gestalt. Other common findings include seizures, vision defects, brain abnormalities and skeletal abnormalities of the hands and feet. Less common features include optic nerve defects, contractures, ataxia, and cardiac anomalies.ConclusionDYRK1A testing should be considered in individuals with the facial features, intellectual disability and post-natal microcephaly. Once diagnosed with DYRK1A-related intellectual disability, a cardiac and ophthalmologic assessment would be recommended as would routine surveillance by a pediatrician for psychomotor development, growth, and feeding.

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

Cited by 12 publications

References 18 publications

Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis– a case report

Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis– a case report

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

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