Topical Collection "Teaching Cases in Nephrology, Dialysis and Transplantation"

A topical collection in Kidney and Dialysis (ISSN 2673-8236).

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Editors

1. Nephrology, Centre Hospitalier Le Mans, 72037 Le Mans, France
2. Department of Clinical and Biological Sciences, ASOU San Luigi, University of Turin, 10124 Turin, Italy
Interests: CKD; dietary management and CKD; hemodialysis; tailored dialysis (daily dialysis, incremental dialysis); ethical aspects; long term outcomes; pregnancy and CKD; pregnancy and dietary management in kidney transplantation
Special Issues, Collections and Topics in MDPI journals
1. Department of Nephrology, Botkin Hospital, 125284 Moscow, Russia
2. Department of Nephrology and Hemodialysis, Russian Medical Academy of Continuing Professional Education, 125993 Moscow, Russia
Interests: primary glomerulonephritis; autoimmune systemic diseases; thrombotic microangiopathies; pregnancy-related kidney disorders; paraneoplastic nephropathies; anti-cancer drug nephrotoxicity; monoclonal gammopathy of renal significance
Special Issues, Collections and Topics in MDPI journals

Topical Collection Information

Dear Colleagues,

Kidney and Dialysis is an international, peer-reviewed, open access journal on nephrology and dialysis published quarterly online by MDPI. Kidney and Dialysis runs Topical Collection to create collections of papers on specific topics. The aim is to build a community of authors and readers to discuss the latest research and develop new ideas and research directions. Collection Editors who are experts in the subject and oversee the editorial process for papers lead Topical Collection.

Now we start a new initiative—we aim to collect and publish intriguing case reports as teaching tools in nephrology dialysis and transplantation.

One of the charms of nephrology is that it deals with very heterogeneous patients, and with very heterogeneous diseases.

In nephrology, probably more than in any other discipline, exceptions teach rules, and the educational value of discussing single intriguing cases is high.

With this in mind, we would like to dedicate a section of Kidney and Dialysis to the discussion of intriguing cases in nephrology, dialysis and transplantation.

In this section, we would like first to share experience: if a case has challenged and intrigued us, it will probably intrigue others, and reading about it may give a clue, or at least a hint, to the diagnosis.

Please share with us your intriguing cases, highlighting their main messages and the main difficulties you experienced on the way to diagnosis and/or in their management.

The devil is often in the details: we do not want to share “me-too” cases, or show “how good” we have been. We would like to ease the pathway for our colleagues facing a difficult case.

Our goal will be reached when many colleagues say: ”Ah, I saw a similar case on KiD (Kidney and Dialysis), it helped our diagnostic pathway….”

Welcome to KiD, and welcome to the “Intriguing case” series!

We hope this topic is of interest to you, and for submissions by 22 December 2023, we will offer publication free of charge.

Prof. Dr. Giorgina Barbara Piccoli
Dr. Elena Zakharova
Collection Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the collection website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Kidney and Dialysis is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (8 papers)

2023

Jump to: 2022

Case Report
PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome
Kidney Dial. 2023, 3(3), 255-264; https://doi.org/10.3390/kidneydial3030023 - 04 Jul 2023
Viewed by 574
Abstract
The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system. Heterozygous mutations in the PAX2 gene cause renal coloboma syndrome, a rare autosomal dominant disorder characterized by optic [...] Read more.
The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system. Heterozygous mutations in the PAX2 gene cause renal coloboma syndrome, a rare autosomal dominant disorder characterized by optic nerve coloboma and renal anomalies. In this study, two siblings with chronic kidney disease (CKD) receiving regular dialysis therapy were investigated. DNA sequencing was performed on blood samples from both patients, which revealed four novel heterozygous variations in the PAX2 gene in both patients. Sequencing analysis showed a C to G transversion at position c.352 of the PAX2 gene in a heterozygous state. Full article
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Case Report
Genetic Variability of HUPRA Syndrome—A Case Report
Kidney Dial. 2023, 3(2), 196-203; https://doi.org/10.3390/kidneydial3020018 - 26 Apr 2023
Viewed by 1086
Abstract
HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by a mutation in the SARS2 gene encoding mitochondrial seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We present a case report of a boy aged 1 year 2 [...] Read more.
HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by a mutation in the SARS2 gene encoding mitochondrial seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We present a case report of a boy aged 1 year 2 months with premature anemia, hyperuricemia, pulmonary hypertension, renal failure, and alkalosis and diagnosed with HUPRA syndrome. This disease is known to be progressive and fatal. A genetic test revealed a new previously undescribed heterozygous nucleotide variant in exons 14 and 1 of the SARS2 gene. The nucleotide substitution c.1295G > A (p.Arg432His) was detected in exon 14; according to the criteria of the American College of Medical Genetics (ACMG), this missense mutation is probably pathogenic. The nucleotide substitution c.227T > C (p.Leu76Pro) was detected in exon 1; according to the ACMG criteria, this missense mutation is a variant of unclear significance. We suggest that previously undescribed nucleotide substitutions in the SARS2 gene revealed in a patient with typical clinical presentation of the HUPRA syndrome should be considered as a pathogenic mutation. Full article
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Case Report
Kidney Biopsy in a Patient with Cardiorenal Metabolic Syndrome—How to Interpret Histopathology
Kidney Dial. 2023, 3(2), 171-177; https://doi.org/10.3390/kidneydial3020015 - 04 Apr 2023
Viewed by 795
Abstract
The components of Cardiorenal Metabolic Syndrome (CRMS) include central obesity, insulin resistance, hypertension, metabolic dyslipidemia, proteinuria, and/or reduced glomerular filtration rate. Kidney biopsy is rarely performed in patients with CRMS; histopathology findings include glomerulopathy, podocytopathy, mesangial expansion and proliferation, glomerular basement thickening, global [...] Read more.
The components of Cardiorenal Metabolic Syndrome (CRMS) include central obesity, insulin resistance, hypertension, metabolic dyslipidemia, proteinuria, and/or reduced glomerular filtration rate. Kidney biopsy is rarely performed in patients with CRMS; histopathology findings include glomerulopathy, podocytopathy, mesangial expansion and proliferation, glomerular basement thickening, global and segmental sclerosis, interstitial fibrosis and tubular atrophy, and arterial sclerosis and hyalinosis. We report a case of CRMS with slow progression during 10 years of follow-up on chronic kidney disease (CKD). The middle-aged patient had central obesity, hypertension, dyslipidemia, cardiovascular disease, type 2 diabetes mellitus, proteinuria, and CKD stage G3b-G4. Kidney biopsy, performed 3 years after the first presentation, led to the diagnosis of chronic thrombotic microangiopathy (TMA) and complement-associated glomerulopathy. This was not compatible with the medical history and the course of the disease, and previous kidney biopsy review showed metabolic nephropathy with glomerulomegaly, global and segmental glomerulosclerosis, tubular atrophy and interstitial fibrosis, arteriosclerosis, and lipid embolus in the lumen of one artery, and found neither TMA features nor C3 deposition. The reported case demonstrates the importance of an accurate and thoughtful reading and interpretation of kidney biopsy, and stresses that disregarding medical history may potentially mislead and alter the understanding of the true cause of CKD. Full article
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Case Report
Stenotrophomonas maltophilia: A Case Series and Review for an Uncommon Cause of Peritoneal Dialysis-Associated Infection
Kidney Dial. 2023, 3(1), 75-83; https://doi.org/10.3390/kidneydial3010007 - 24 Jan 2023
Viewed by 1258
Abstract
Peritonitis is a common and potentially serious complication of peritoneal dialysis (PD). Common organisms include Staphylococcus Aureus, enterococci, and coagulase-negative staphylococcus. However, Stenotrophomonas maltophilia (S. maltophilia) is an uncommon cause of PD-related infection. We describe a series of three cases [...] Read more.
Peritonitis is a common and potentially serious complication of peritoneal dialysis (PD). Common organisms include Staphylococcus Aureus, enterococci, and coagulase-negative staphylococcus. However, Stenotrophomonas maltophilia (S. maltophilia) is an uncommon cause of PD-related infection. We describe a series of three cases of S. maltophilia PD infection (two cases of PD peritonitis and one case of PD exit-site infection) that were identified over a seven-week period in a single centre. The cases were treated with antibiotics (the primary antibiotic being co-trimoxazole) for a mean duration of 30 ± 7.9 days. All of the patients required PD catheter removal due to treatment failure with antibiotics. Hospital admission was required in two of the cases and one case resulted in mortality, with the cause of death directly associated with complications from S. maltophilia infection. A multi-disciplinary team using root-cause analysis did not identify a common link between our cases but highlighted possible risk factors contributing to these presentations. Given the relative rarity of S. maltophilia, evidence on its management options remains limited. In this article, we draw upon our own experiences and examine the literature available from previously published case reports and series. These reports highlight S. maltophilia as a complex and challenging organism to treat. Our experience demonstrated the importance of early PD catheter removal in S. maltophilia PD infection, as this is likely more effective than prolonged antibiotic therapy and hence a safer management option, considering the resistant nature of S. maltophilia. Full article

2022

Jump to: 2023

Case Report
Carfilzomib-Induced Thrombotic Microangiopathy Treated with Eculizumab: A Case Report and Rapid Literature Review
Kidney Dial. 2022, 2(4), 625-637; https://doi.org/10.3390/kidneydial2040056 - 12 Dec 2022
Viewed by 982
Abstract
Background: Thrombotic microangiopathies (TMAs) can be induced by drugs. Recent works have indicated proteasome inhibitors, including carfilzomib, as a possible new causative agent. Although the physiopathology and management of carfilzomib-induced TMA are still unknown, eculizumab seems to be efficient. Results: We report a [...] Read more.
Background: Thrombotic microangiopathies (TMAs) can be induced by drugs. Recent works have indicated proteasome inhibitors, including carfilzomib, as a possible new causative agent. Although the physiopathology and management of carfilzomib-induced TMA are still unknown, eculizumab seems to be efficient. Results: We report a clinical case of TMA during carfilzomib treatment for multiple myeloma, possibly triggered by a concomitant influenza infection, suggesting a multi-hit process. Histologic analysis of the kidney biopsy proved renal TMA. Eculizumab allowed rapid and long-lasting renal and hematologic recovery. We enriched our work with a systemic review of published cases of carfilzomib-induced TMA treated by eculizumab. Twelve patients were included, all of whom presented acute renal failure and nine of them required hemodialysis. Eculizumab led to TMA resolution in eleven patients and complete renal recovery with hemodialysis withdrawal for seven of them within a month. One patient died from multiple myeloma progression. Two patients presented inter-current viral infection. Soluble complement fragment Bb and C5b9s were found in two patients and genetic benign variant of Factor H (CFH3–CFH1) in four. Conclusion: Our results suggest that eculizumab is effective in carfilzomib-induced TMA, which could support its inclusion as a treatment option. Further studies are required to clarify its physiopathology, complement role, and management. Full article
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Case Report
An Unusual Cause of Acute Kidney Injury in Pregnancy: Beware of HELLP Look-Alikes
Kidney Dial. 2022, 2(4), 588-594; https://doi.org/10.3390/kidneydial2040053 - 10 Nov 2022
Viewed by 1035
Abstract
The differential diagnosis between new occurrence or revelation of chronic kidney diseases in pregnancy and hypertensive disorders of pregnancy is not easy, and the presence of a hypertensive disorder superimposed on a glomerular disease is even more challenging, as this case exemplifies. A [...] Read more.
The differential diagnosis between new occurrence or revelation of chronic kidney diseases in pregnancy and hypertensive disorders of pregnancy is not easy, and the presence of a hypertensive disorder superimposed on a glomerular disease is even more challenging, as this case exemplifies. A 29-year-old woman was referred with HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome at the end of her pregnancy. Immediately after cesarean delivery, she developed anuria, unexplained by blood loss or hypotension, and in the absence of known nephrotoxic drugs. While the laboratory features of HELLP rapidly resolved, AKI persisted, and the finding of high-level proteinuria was the hint leading to diagnosis of a glomerular disease (focal segmental glomerulosclerosis, FSGS), later proven by kidney biopsy. This case, reporting on the rare association between HELLP and FSGS, offers the opportunity to discuss the role of proteinuria, hypertension, and in the differential diagnosis of pregnancy-related acute kidney injury (pAKI). Full article
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Case Report
Remission of Proteinuria in a Patient Affected by Crescentic IgA Nephropathy with Rapidly Progressive Glomerulonephritis Treated by Sodium-Glucose Cotransporter-2 Inhibitors: Casual or Causal Relationship?
Kidney Dial. 2022, 2(4), 545-552; https://doi.org/10.3390/kidneydial2040049 - 20 Oct 2022
Cited by 1 | Viewed by 1632
Abstract
Crescentic IgA nephropathy (IgAN) with rapidly progressive glomerulonephritis (RPGN) is often associated with rapidly declining kidney function. Up to this date, specific therapy for crescentic IgAN is still unknown. Accumulating evidence suggests that sodium-glucose co-transporter-2 inhibitors (SGLT-2i) may have a role in standard [...] Read more.
Crescentic IgA nephropathy (IgAN) with rapidly progressive glomerulonephritis (RPGN) is often associated with rapidly declining kidney function. Up to this date, specific therapy for crescentic IgAN is still unknown. Accumulating evidence suggests that sodium-glucose co-transporter-2 inhibitors (SGLT-2i) may have a role in standard therapy of glomerular diseases. However, it is unclear at what point in the natural history of specific glomerular diseases SGLT-2i can be beneficial. We report the clinical and histological features of a patient with crescentic IgAN that presented as an RPGN, who received intensive immunosuppression and renal replacement therapeutic (RRT). At the third month, the patient presented with significant improvement in his kidney function. At that point, we decided to start dapagliflozin in addition to his renin-angiotensin system (RAS) blocker, basing our decision on its proven renal benefits such as slowing the rate of decline in kidney function and reducing albuminuria. At the eighth month, the patient’s renal function gradually improved from serum Cr of 6.07 to 2.1 mg/dL; and urine albumin to creatinine ratio (UACR) declined from 5655 mg/g to 200 mg/g. The use of SGLT-2i in primary and secondary nondiabetic glomerular disease appears promising. It is crucial and necessary to accumulate more evidence for a more complete understanding of the mechanisms of the actions of SGLT-2i in non-diabetic glomerular disease. Full article
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Case Report
Acute Kidney Injury and Hypothyroidism in a Patient with CKD
Kidney Dial. 2022, 2(4), 537-544; https://doi.org/10.3390/kidneydial2040048 - 17 Oct 2022
Viewed by 1613
Abstract
Acute kidney injury (AKI) in the setting of hypothyroidism has been documented in the literature. However, hypothyroidism is not generally considered a cause during investigation of an acute kidney injury. Most of the cases described have been reported in setting of rhabdomyolysis, while [...] Read more.
Acute kidney injury (AKI) in the setting of hypothyroidism has been documented in the literature. However, hypothyroidism is not generally considered a cause during investigation of an acute kidney injury. Most of the cases described have been reported in setting of rhabdomyolysis, while fewer cases describe AKI occurring in the absence of rhabdomyolysis. Only rarely have case reports been supplemented by renal biopsy findings to ensure other etiologies of acute kidney injury were ruled out, and none of these reports have documented changes in the kidney that could be associated with the hypothyroid state. We report a case of AKI in chronic kidney disease in the absence of rhabdomyolysis, occurring during severe hypothyroidism, that resolved completely after achievement of a euthyroid state. In addition, we provide renal biopsy findings likely associated with the hypothyroid state. We propose that evaluation of the thyroid function should be considered in any patient during evaluation of an acute kidney injury. Full article
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