Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center

Maximiano, Cristiana; Silva, Andreia; Duro, Inês Pires; Branco, Tiago Pugliese; Correia-Costa, Liane; Teixeira, Ana; Rocha, Liliana; Costa, Teresa; Matos, Paula; Faria, Maria do Sameiro; Mota, Conceição; Afonso, Alberto Caldas

doi:10.1590/2175-8239-jbn-2020-0199

Cited by 7 publications

(4 citation statements)

References 17 publications

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“…Together, these cases show that aHUS can occur after other glomerular diseases and should be considered when thrombocytopenia and hemolytic anemia occur in a patient with nephrotic syndrome. As reported in most of the patients with DGKE -aHUS in the literature ( 10 , 11 , 14 , 19 , 22 , 24 , 25 , 26 ), our patient with DGKE variations was diagnosed in the first year of his life. At the time of diagnosis, he had edema, oliguria, petechiae, soy sauce-colored urine, and hypertension.…”

Section: Discussionmentioning

confidence: 54%

“…The finding that podocyte dysfunction with nephrotic-range proteinuria is a complication of this form of DGKE -aHUS predisposes patients to the development of TMA. Some patients with combined variants in the DGKE gene and the complement system have been identified, which possibly explains the spectrum of clinical manifestations ( 9 , 11 , 25 ). In addition, the loss of various regulators through the leaked kidney and hepatic synthesis of procoagulation factors results in an imbalance of coagulation regulators, which also contribute to the development of TMA, consistent with the pathogenesis of nephrotic syndrome with hypercoagulability.…”

Section: Discussionmentioning

confidence: 99%

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Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report

Dai

Lin

et al. 2023

Front. Pediatr.

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BackgroundAtypical hemolytic uremic syndrome (aHUS) with diacylglycerol kinase epsilon (DGKE) gene variant is a rare variant of thrombotic microangiopathy (TMA). The information on the clinical features, management and long-term outcomes of DGKE-aHUS patients have not yet been fully elucidated. The aim of this study was to report a novel variant of the DGKE gene in a Chinese population with aHUS.Case presentationThe present work reports a 7-month-old boy with aHUS, possibly triggered by gastrointestinal infection, without complement activation, with little response to plasma therapy and nephroprotective measures. The patient died during the 8th week of his hospital stay. The causes of death were intracranial hemorrhage and multiorgan dysfunction. Comprehensive WES of peripheral blood-derived DNA revealed two heterozygous variations in the DGKE exon region: NM_003647.2, c.610dup, p.Thr204Asnfs*4 and deletion of exons 4–6.ConclusionsThis case suggest that atypical HUS with DGKE gene variant has a poor prognosis with a high mortality rate, which typically manifests in the first year of life and presents as a systemic disease with early-onset HUS with rapidly worsening renal function and chronic proteinuria. There is no specific treatment for DGKE-aHUS. There have an uncertain benefit of plasma therapy for DGKE-aHUS patients. The literature demonstrated that anti-complement therapy showed benefits for DGKE-aHUS with complement activation and autoantibodies during the overt TMA presentation but did not prevent TMA relapses. Early diagnosis and treatment may prevent complications and improve prognosis.

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Section: Discussionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 99%

Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report

Dai

Lin

et al. 2023

Front. Pediatr.

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“…In the Indian population, atypical HUS associated with anti-complement factor H (anti-CFH) antibodies prevails, constituting approximately 50% of pediatric HUS cases [ 4 ]. Recent insights into the disease reveal that almost 60% of atypical HUS patients exhibit gene mutations encoding complement-regulating proteins, leading to atypical HUS presentation in children without autoimmune anti-factor H antibodies [ 5 ]. The 2015 international consensus recommends genetic screening in all atypical HUS cases (first episode or relapse) in the absence of causative diseases, Shiga toxin-producing Escherichia coli (STEC) infection, severe "a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13" (ADAMTS13) deficiency, hyperhomocysteinemia, or methylmalonic aciduria [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

A Severe Form of Atypical Hemolytic Uremic Syndrome in a Two-Year-Old Girl: A Case Report

Meshram,

Rajan,

Arora

et al. 2024

Cureus

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Hemolytic uremic syndrome (HUS) is a prevalent cause of severe acute kidney injury in children, often leading to chronic renal damage. It is characterized by thrombotic microangiopathy (TMA), which represents a triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. The choice of treatment and management strategies depends primarily on the underlying etiology. We present the case of a two-year-old girl diagnosed with rapidly progressive glomerulonephritis accompanied by hypertension necessitating renal replacement therapy. Initial laboratory findings indicated positive antinuclear antibodies, prompting immunosuppression and renal biopsy, revealing TMA with minimal chronicity changes. The treatment involved plasmapheresis and a single dose of injection rituximab, resulting in clinical recovery with an improved glomerular filtration rate. Since the anti-complement factor H antibody result was negative, the genetic etiology of atypical HUS was considered. The patient was discharged with favorable outcomes, including normal urine output and the absence of edema. This case concludes that young children with atypical HUS may present with a severe clinical course necessitating early intervention. The lack of genetic analysis facilities in severe cases should not hinder the timely initiation of plasmapheresis to prevent further injury and progression to chronic kidney disease.

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“…A year ago, I was invited to write an editorial 2 , 3 about the experience with Atypical Hemolytic Uremic Syndrome (aHUS), also in a tertiary center in Portugal.…”

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confidence: 99%

We still need to talk about Hemolytic Uremic Syndrome: early recognition is key!

Palma

2023

Braz. J. Nephrol.

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Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center

Abstract: Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary centerSíndrome hemolítica urêmica atípica genética em crianças: uma experiência de 20 anos a partir de um centro terciário

Cited by 7 publications

References 17 publications

Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report

Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report

A Severe Form of Atypical Hemolytic Uremic Syndrome in a Two-Year-Old Girl: A Case Report

We still need to talk about Hemolytic Uremic Syndrome: early recognition is key!

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