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Rationale & Objective: Fabry disease (FD) is an X-linked genetic disorder that causes lysosomal storage of glycosphingolipids, primarily globotriaosylceramide (Gb3) and its derivative globotriaosylsphingosine (lyso-Gb3), with multiorgan dysfunction including chronic kidney disease. Affected individuals may be carriers of gene variants that are of uncertain significance (GVUS). We describe kidney pathology at the early stages of FD-related kidney disease to gain insights into its association with GVUS and sex., Study Design: Single-center, case series., Setting & Participants: Thirty-five consecutively biopsied patients (aged 48.1±15.4 years, 22 females) from among 64 patients with genetically diagnosed FD. Biopsies were retrospectively screened using the International Study Group of Fabry Nephropathy Scoring System., Observations: Genetic mutation type, p.N215S and D313Y, sex, age, estimated glomerular filtration rate (eGFR), plasma lyso-Gb3 (pLyso-Gb3) levels, and histological parameters, including Gb3 deposits were recorded. Genetic analyses showed mostly missense mutations, p.N215S variant in 15, and the "benign polymorphism" D313Y in 4 of the biopsied patients. Morphological lesions were similar for men and women except for interstitial fibrosis and arteriolar hyalinosis being more common in men. Early in their clinical course, patients with normal/mild albuminuria had podocyte, tubular, and peritubular capillary vacuoles/inclusions, and evidence of chronicity, i.e., glomerulosclerosis, interstitial fibrosis, tubular atrophy. These findings appeared to be associated with pLyso-Gb3, eGFR, and age., Limitations: Retrospective design and inclusion of outpatients partially based on family pedigree., Conclusions: In early stages of kidney disease in the setting of FD, numerous histological abnormalities are present. These observations suggest that kidney biopsies early in FD may reveal activity of kidney involvement that may inform clinical management., (Copyright © 2023 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.)

Background: Little information on the management and long-term follow-up of patients with biallelic mutations in the chloride channel gene CLCNKB is available., Methods: Long-term follow-up was evaluated from 5.0 to 24 years (median, 14 years) after diagnosis in 13 patients with homozygous (n = 10) or compound heterozygous (n = 3) mutations., Results: Medical treatment at last follow-up control included supplementation with potassium in 12 patients and sodium in 2 patients and medical treatment with indomethacin in 9 patients. At the end of follow-up, body height was 2.0 standard deviation score or less in 6 patients; 2 of these patients had growth hormone deficiency. Body weight (

About 15% of children with Shiga toxin (Stx) producing Escherichia coli (STEC) primarily of serotype O157:H7, gastrointestinal infection, and watery or bloody diarrhea, may develop hemolytic uremic syndrome (D+ HUS). Usually D+ HUS is not complicated by bacteremia and patients recover spontaneously without antibiotic treatment. We report here an adult case of a STEC O157:H7 urinary tract infection complicated by bacteremia and HUS that was not preceded by diarrhea (D- HUS). Cases of D- HUS need to be carefully examined for foci other than the gastrointestinal tract, and patients with E coli bacteremia should receive early antibiotic treatment as would any patient with sepsis., (Copyright 2003 by the National Kidney Foundation, Inc.)