Recurrent Ocular Involvement in Pediatric Atypical Hemolytic Uremic Syndrome

Abstract

Atypical hemolytic uremic syndrome (HUS) is a subtype of thrombotic microangiopathy associated with complement alternative pathway dysregulation. It is clinically characterized by a relapsing course and a poor prognosis. Multiple organ systems are commonly affected by thrombotic microangiopathy in pediatric atypical HUS; however, ocular involvement is rarely reported. The case of an 11-year-old girl diagnosed as having atypical HUS who presented with bilateral central retinal vein occlusions with macular subhyaloid hemorrhage during her initial onset and ophthalmoplegia, diplopia, and optic disc edema during her relapsing episode 1 year later is described. All ocular manifestations occurred in the convalescence phase of atypical HUS. No other extrarenal complications were found and full recovery was achieved following typical treatment for atypical HUS (ie, plasma infusion, steroid, and supportive therapy). This is thought to be the first reported case of recurrent ocular involvement in pediatric atypical HUS.

Case report of atypical hemolytic uremic syndrome with retinal arterial and venous occlusion treated with eculizumab

“… 6 – 8 More recent publications have chronicled the development and resolution of ocular manifestations in aHUS patients since the availability of eculizumab. 9 , 10 A case study of a patient with preeclampsia and HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome who developed thrombocytopenia, elevated liver enzymes, and progressive renal failure demonstrated bilateral retinal serous detachment following diagnosis of aHUS and initiation of PE, dialysis, and steroids. 9 Following initiation of eculizumab therapy, the hematologic, renal, and ocular components of her TMA manifestation resolved.…”

“…Most recently, the first case of recurrent ocular involvement in pediatric aHUS was reported. 10 An 11-year-old girl was diagnosed with aHUS following a TMA manifestation with renal impairment, and received plasma and red blood cell infusions and hemodialysis. Following discontinuation of hemodialysis, decreased visual acuity caused by bilateral retinal vein occlusion/venous stasis retinopathy occurred.…”

“… 4 Extrarenal TMA events are increasingly characterized as occurring in up to half of all patients, 5 although ocular involvement has only been described in rare cases of diagnosed aHUS. 6 – 10 To my knowledge, only two such cases involving bilateral serous retinal detachment 9 and bilateral retinal vein occlusion/venous stasis retinopathy 10 have been reported since the approval of eculizumab, a terminal complement inhibitor, in 2011 for treatment of aHUS. 11 , 12 Herein, a case of aHUS with bilateral central retinal artery and vein occlusion, vitreous hemorrhage, and blindness that improved following eculizumab therapy is described.…”

Ocular thrombotic microangiopathy in atypical hemolytic-uremic syndrome (a clinical case study)

“…Повреждение органа зрения является редким проявлением этого заболевания [9,11]. В литературе приводятся описания преимущественно единичных случаев поражения глаза при аГУС [9][10][11][12][13][14][15]. В ретроспективном исследовании E. Phillips и соавторы сообщают о зрительных нарушениях у 7% пациентов [4].…”

“…Однако в работе отечественных авторов поражение органа зрения обнаружено у 7 (17,9%) из 39 больных с аГУС, причем часть из них не предъявляли жалоб на нарушение зрения [16]. У пациентов с аГУС были обнаружены серозные ретинальные повреждения, витреальные и хориоидальные кровоизлияния, неоваскуляризация, оптическая атрофия, офтальмоплегия [10,[12][13][14][15]. Однако большинство исследователей сообщают о преимущественно билатеральном повреждении органа зрения при аГУС в виде так называемой пурчерподобной ретинопатии (ППР) с оте-ком диска зрительного нерва (ДЗН), интраретинальными кровоизлияниями, мягкими ватообразными экссудатами, макулярным отеком [9][10][11][12]15].…”