Hemorrhagic Cysts and Other MR Biomarkers for Predicting Renal Dysfunction Progression in Autosomal Dominant Polycystic Kidney Disease.

Background: Screening for rapidly progressing autosomal dominant polycystic kidney disease (ADPKD) is necessary for assigning and monitoring therapies. Height-adjusted total kidney volume (ht-TKV) is an accepted biomarker for clinical prognostication, but represents only a small fraction of information on abdominal MRI.

Purpose: To investigate the utility of other MR features of ADPKD to predict progression.

Spleen phenotype in autosomal dominant polycystic kidney disease.

Aim: To evaluate splenic phenotype in autosomal dominant polycystic kidney disease (ADPKD) including presence of cysts and splenomegaly to determine if these are ADPKD related or represent unrelated incidental findings.

Materials And Methods: The axial/coronal T2-weighted images of ADPKD patients (n=215) and age/gender-matched controls (n=215) were evaluated for the presence of T2-bright splenic lesions by three blinded observers. Spleen volume (SV) was evaluated in the context of clinical and imaging features as well as results of gene testing for PKD1 and PKD2 mutations.

Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease.

Background: Autosomal dominant polycystic kidney disease (ADPKD) can involve prostate and seminal vesicles but the potential interrelationship of these findings and associations with PKD gene mutation locus and type is unknown.

Purpose: To determine the interrelationship of seminal megavesicles (seminal vesicles with lumen diameter > 10mm) and prostatic cysts in ADPKD and to determine whether there are associations with PKD gene mutations.

Study Type: Retrospective, case control.

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused by mutations in and that is characterized by renal tubular epithelial cell proliferation and progressive CKD. Although the molecular mechanisms involved in cystogenesis are not established, concurrent inactivating constitutional and somatic mutations in ADPKD genes in cyst epithelium have been proposed as a cellular recessive mechanism.

Methods: We characterized, by whole-exome sequencing (WES) and long-range PCR techniques, the somatic mutations in and genes in renal epithelial cells from 83 kidney cysts obtained from nine patients with ADPKD, for whom a constitutional mutation in or was identified.

First-in-man allopregnanolone use in super-refractory status epilepticus.

Super-refractory status epilepticus (SRSE) is associated with high morbidity and mortality. Treatment of SRSE is complicated by progressive cortical hyperexcitability believed to result in part from synaptic GABA receptor internalization and desensitization. Allopregnanolone, a neurosteroid that positively modulates synaptic and extrasynaptic GABA receptors, has been proposed as a novel treatment.