Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease

Yoshida, Tadashi; Hiratsuka, Ken; Yamashita, Mitsuaki; Matsui, Akihiro; Hayashi, Matsuhiko

doi:10.1007/s13730-015-0176-z

Cited by 5 publications

(3 citation statements)

References 17 publications

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“…Brain magnetic resonance imaging exhibited no abnormal findings, including molar tooth sign, a major characteristic of Joubert syndrome [1,2]. At the age of 61, she developed uremia-induced posterior reversible encephalopathy syndrome as reported previously [3]. She exhibited loss of consciousness and subsequent visual disturbance, which were recovered by the initiation of hemodiafiltration therapy.…”

Section: Case Reportmentioning

confidence: 60%

“…Two homozygous single nuclear polymorphisms were detectable in the PKHD1 gene, although both alterations (p.Leu1870Val and p.Gln4048Arg) were considered to be amino acid substitution polymorphisms rather than the mutations causing autosomal recessive polycystic kidney disease [3]. Then, NGS was performed using the TruSight One Sequencing Panel (Illumina, San Diego, CA, USA), which provided comprehensive coverage of 4,813 diseaseassociated genes.…”

Section: Case Reportmentioning

confidence: 99%

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Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation

Kawaguchi

Yoshida

Hirahashi

et al. 2018

Nephron

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Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal recessive disorders characterized by renal corticomedullary cysts with the extrarenal symptoms. Typically, patients with NPHP-RC reach end-stage kidney disease (ESKD) before the age of 30 years. We herein report a Japanese woman with NPHP-RC who had unusually delayed progression to ESKD after 6 decades. She exhibited liver dysfunction at the age of 23 years. She also showed mild renal dysfunction at the age of 43 years. Ultrasonography revealed bilateral multiple renal cysts with loss of corticomedullary differentiation. Her liver and renal functions gradually deteriorated. She was diagnosed with liver fibrosis as a result of biopsy, and initiated the maintenance hemodiafiltration therapy for ESKD at the age of 61 years. Because of a unique combination of multiple renal cysts and liver fibrosis, ciliopathy was suspected and medical exome analysis was performed. A novel homozygous missense mutation was identified in RPGRIP1L (c.1810G>A p.Glu604Lys), a causative gene for NPHP-RC. To the best of our knowledge, this patient is the oldest one who progressed to ESKD in NPHP-RC. Our case illustrates that NPHP-RC should be included in the differential diagnosis of the patient with corticomedullary polycystic kidneys accompanied by the extrarenal organ involvements, even if the patient is elderly.

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Section: Case Reportmentioning

confidence: 60%

Section: Case Reportmentioning

confidence: 99%

Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation

Kawaguchi

Yoshida

Hirahashi

et al. 2018

Nephron

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“…27,52 Indications for liver transplantation in ARPKD patients include recurrent, endoscopically incurable bleedings from esophageal varices, recurrent cholangitis, and liver decompensation or encephalopathy. 53 ARPKD is a major indication (besides primary hyperoxaluria) for combined liver and kidney transplantation during childhood. 54 ARPKD patients are at risk of feeding difficulties.…”

Section: Managementmentioning

confidence: 99%

Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

2020

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Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). Clinical features also include growth failure and neurocognitive impairment. Plurality of clinical aspects requires multidisciplinary approach to treatment and care of patients. Until recently, diagnosis was based on clinical criteria. Results of genetic testing show the molecular basis of polycystic kidneys disease is heterogeneous, and differential diagnosis is essential. The aim of the article is to discuss the role of genetic testing and its difficulties in diagnostics of ARPKD in children.

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Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Burgmaier

Kilian

Bammens

et al. 2019

Sci Rep

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Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. Here, we describe forty-nine patients with longitudinal follow-up into young adulthood that were identified in the international ARPKD cohort study ARegPKD. Forty-five patients were evaluated in a cross-sectional analysis at a mean age of 21.4 (±3.3) years describing hepatorenal findings. Renal function of native kidneys was within CKD stages 1 to 3 in more than 50% of the patients. Symptoms of hepatic involvement were frequently detected. Fourteen (31%) patients had undergone kidney transplantation and six patients (13%) had undergone liver transplantation or combined liver and kidney transplantation prior to the visit revealing a wide variability of clinical courses. Hepatorenal involvement and preceding complications in other organs were also evaluated in a time-to-event analysis. In summary, we characterize the broad clinical spectrum of young adult ARPKD patients. Importantly, many patients have a stable renal and hepatic situation in young adulthood. ARPKD should also be considered as a differential diagnosis in young adults with fibrocystic hepatorenal disease.

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Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease

Cited by 5 publications

References 17 publications

Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous <b><i>RPGRIP1L</i></b> Mutation

Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous <b><i>RPGRIP1L</i></b> Mutation

Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

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