BACKGROUND:Myeloma cast nephropathy (CN) is a severe complication of multiple myeloma and a frequent cause of dialysis-dependent acute kidney injury (AKI). High circulating free light chains (FLC) contribute to tubular injury, and strategies aimed at accelerating their reduction have been proposed. Medium cut-off (MCO) membranes allow enhanced clearance of middle molecules, including FLC. Clinical data regarding their implementation in routine practice remain limited. The aim of this study was to describe our institutional experience following the introduction of MCO hemodialysis in patients with dialysis-dependent CN. MATERIALS AND METHODS:We conducted a retrospective single-center case series including consecutive patients treated between February 2024 and December 2025. Eligible patients had dialysis-dependent AKI due to presumed or biopsy-proven CN and were managed according to a predefined protocol combining anti-myeloma therapy and intensive MCO hemodialysis (Theranova 500), consisting of eight 6-hour sessions within the first 10 days when clinically feasible. Serum FLC levels were measured before each session. RESULTS:Six patients were included. Baseline FLC levels ranged from 1,550 to 30,000 mg/L. A marked early decline in circulating FLC was observed during the intensive MCO phase, with 4 patients achieving > 80% reduction. Treatment interruptions due to clinical instability, frequently associated with infectious complications, occurred in several cases. Renal trajectories were heterogeneous, and dialysis independence was achieved in 3 patients. CONCLUSION:This case series describes the real-world implementation of MCO hemodialysis in dialysis-dependent CN. Although substantial early FLC reduction was observed, renal recovery varied and appeared to be influenced by multiple clinical factors.
Mesenteric cysts are uncommon benign abdominal lesions with no specific clinical features. Their occurrence during hemodialysis is exceptional. We report the case of a 22-year-old patient who had been treated with peritoneal dialysis for 2 years and was subsequently transferred to hemodialysis because of refractory peritonitis. Three years later, he presented with a progressive abdominal distension caused by a large mass extending from the epigastric to the pelvic region. Exploratory laparoscopy revealed a giant cystic lesion occupying the entire peritoneal cavity. Complete surgical excision was performed. Histopathological examination confirmed a benign mesenteric cyst of mesothelial origin. This rare complication may be associated with previous peritoneal dialysis, recurrent peritonitis, and a chronic inflammatory state.
Metformin-associated lactic acidosis (MALA) is a rare phenomenon mostly described in the setting of impaired renal elimination or following an acute overdose. While metformin is first-line treatment for type 2 diabetes mellitus, glucagon-like peptide-1 (GLP-1) receptor agonists and glucose-dependent insulinotropic polypeptide (GIP) and GLP-1 dual receptor agonists are frequent add-on agents. Both classes of medications share common gastrointestinal adverse reactions, including decreased appetite, nausea, vomiting, and abdominal pain. We present a series of four critically ill patients with type 2 diabetes mellitus on high-dose metformin who presented with severe MALA following the introduction or dose escalation of a GLP-1 or GIP/GLP-1 dual receptor agonist, or during an acute gastrointestinal illness while also on a maintenance dose of a GLP-1 receptor agonist, requiring acute renal replacement therapy. Prudence must be exercised when co-prescribing these 2 classes of medications with close monitoring of kidney function, possible reduction in metformin dose, and emphasis on sick day rule teaching.
Syndromic associations of kidney and ophthalmological diseases are not typical in the young adult. The most common kidney manifestations are malformations of the genitourinary apparatus, while some syndromes can also present with kidney parenchymal disease. We report on a 51-year-old woman evaluated in the nephrology clinic for 12 months due to abnormal kidney function. She had been diagnosed with Usher syndrome due to the development of retinitis pigmentosa and sensorineural hearing loss in the last 20 years, without genetic testing. She had a family history of parental consanguinity, and disperse cardiac disease, congenital malformations, and congenital deafness. For chronic kidney disease of unknown etiology, a kidney biopsy was performed which revealed focal segmental glomerulosclerosis (FSGS) of the perihilar variant. This diagnosis prompted genetic testing that identified a mutation on gene SDCCAG8: c.397G>T, known for causing Bardet-Biedl type 16 and Senior-Løken type 7 syndromes. This case of perihilar FSGS is atypical in the setting of a ciliopathy and absence of metabolic or cardiovascular risk. Though urinary tract malformations and kidney disease can be expected, glomerular disease is not described in the literature. Genetic syndromic diagnoses require genetic screening due to the overlap of different symptoms and variable penetrance. The diagnosis of genetic diseases requires a high degree of suspicion, especially when the phenotype of the kidney disease is unusual. Identification of variants can help identify individuals who can benefit from genetic counseling.
BACKGROUND:17q12 microdeletion syndrome is a rare genetic disorder distinguished by diabetes, urogenital abnormalities, pancreatic hypoplasia, and neuropsychiatric developmental anomalies, with hyperuricemia being an infrequent occurrence. We present a unique case of 17q12 microdeletion, encompassing 17 protein-coding genes such as HNF1B, AATF, and DDX52 (3A:0), marking the first documented instance globally. CASE REPORT:An 18-year-old female patient was hospitalized due to persistent right upper abdominal pain for more than a month. She exhibited a normal body mass index and no familial medical history. Biochemical analysis indicated liver impairment, hyperlipidemia, hypomagnesemia, hyperuricemia, and glucose intolerance. Renal ultrasound displayed numerous renal cysts, while a liver biopsy confirmed the presence of non-alcoholic fatty liver disease. Given the early onset of metabolic syndrome, whole-exome sequencing (WES) was conducted on the patient and her parents. RESULTS:By WES and copy number variation verification, the patient was identified as having a de novo heterozygous deletion of one copy in the 17q12 region (34807034-36285028), encompassing 17 protein-coding genes including HNF1B, AATF, and DDX52 (3A:0). Tubulointerstitial lesions are the predominant feature of HNF1B-related renal disease, with hyperuricemia showing limited predictive value despite its common occurrence. Hypomagnesemia is a significant clinical indicator in HNF1B mutation-related conditions. CONCLUSION:Hyperuricemia, hypomagnesemia, and multiple renal cysts can manifest as renal symptoms of the microdeletion in the 17q12 region, with the spectrum of extra-renal manifestations continually expanding. For young patients exhibiting the above metabolic issues, WES is recommended for precise diagnosis.
