Shunsuke Noda

Successful treatment of fulminant Wilson's disease without liver transplantation

Fulminant Wilsons disease (WD) is life‐threatening. The revised WD prognostic index (RWPI) has been used to predict the severity of the disease, with a score ≥11 indicating fatal outcome without liver transplantation (LTx). We here report the case of a 10‐year‐old female patient with fulminant WD (RWPI, 16) who recovered fully after plasma exchange and continuous hemodiafiltration, followed by treatment with copper chelate agents. To the best of our knowledge, there have been five fulminant WD patients with RWPI ≥ 11 including the present patient, in whom LTx was not done. Based on the therapeutic modalities in these five cases, non‐surgical treatment (blood purification and copper chelate agents) may be able to avoid LTx in fulminant WD even with very high RWPI, although preparation for LTx is necessary.

Sequential liver–kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor

Udagawa T, Kamei K, Ogura M, Tsutsumi A, Noda S, Kasahara M, Fukuda A, Sakamoto S, Shigeta S, Tanaka H, Kuroda T, Matsuoka K, Nakazawa A, Nagai T, Uemura O, Ito S. Sequential liver–kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor. 
Pediatr Transplantation 2011.

Renal complications in 6p duplication syndrome: Microarray‐based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)

6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end‐stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4‐Mb duplication at 6p25.3–p25.1 with 32 protein‐coding genes and a 220‐Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non‐coincidental complication. FOXC1, located within the 6.4‐Mb duplicated region at 6p25.3–p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT.

Thrombotic microangiopathy due to multiple autoantibodies related to antiphospholipid syndrome

BackgroundAntiphospholipid syndrome (APS) is a rare disorder in children. More than half of childhood APS occurs as secondary APS complicated by systemic lupus erythematosus (SLE) and other autoimmune diseases.Case-Diagnosis/TreatmentWe encountered a boy with SLE who presented with thrombotic microangiopathy (TMA) due to APS. He was initially diagnosed with SLE and treated with methylprednisolone pulse therapy. However, his renal function rapidly deteriorated. Since poikilocytes were detected, we suspected that his condition was complicated by TMA or APS. Urgent plasma exchange, continuous hemodialysis, and intravenous cyclophosphamide saved the patient and his renal failure ameliorated. A renal biopsy performed at the onset of disease showed multiple microvascular thrombi, diffuse mesangiolysis, and cortical necrosis compatible with TMA. He was positive for anticardiolipin antibody, anti-β2-glycoprotein I antibody, and lupus anticoagulant as well as anti-phosphatidylserine-prothrombin complex IgG antibody (aPS/PT). Anti-a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS13) antibody was negative and ADAMTS13 activity was normal. The aPS/PT is thrombogenic and is a newly discovered lupus anticoagulant.ConclusionsChildhood TMA due to APS has rarely been reported. To the best of our knowledge this is the first report of pediatric TMA due to APS with positive aPS/PT. Physicians need to be aware of aPS/PT in pediatric APS and/or SLE.

A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.

Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300 mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment.

A Pediatric Case of Relapsing-Remitting Multiple Sclerosis Onset following Varicella Zoster Ophthalmicus with Optic Neuritis

Some epidemiological studies have implied a pathogenetic association between varicella zoster virus (VZV) and multiple sclerosis (MS); this, however, remains controversial. The present report describes a case involving an immunocompetent 10-year-old girl who developed relapsing-remitting MS following the prolonged reactivation of VZV inside the first branch of the trigeminal nerve, exhibiting herpes zoster ophthalmicus with severe optic neuritis. Symptoms related to herpes zoster ophthalmicus and MS appeared consecutively in the 10-week period after the appearance of vesicles. This suggests that the onset of MS was triggered by some mechanism involving VZV reactivation in the first branch of the trigeminal nerve. To the best of our knowledge, this report is the first to describe a relationship between the onset of MS and herpes zoster ophthalmicus. Early diagnosis and aggressive antiviral therapy are important in cases of herpes zoster ophthalmicus to prevent the possible development of MS as well as visual impairment as sequela.