Volume 14 (2026), No. 1/2026(1st issue)
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case studies
Idiopathic erythrocytosis as a potential early manifestation with IgA nephropathy: A case report and systematic review
Yagmur Ersoy, Seyda Gul Ozcan, Mevlut Tamer Dincer, Ayse Salihoglu, Nurhan Seyahi, and Sinan Trabulus
Page No. 1
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (1-5)
Idiopathic erythrocytosis as a potential early manifestation with IgA nephropathy: A case report and systematic review
Yagmur Ersoy1, Seyda Gul Ozcan2, Mevlut Tamer Dincer2, Ayse Salihoglu3, Nurhan Seyahi2, and Sinan Trabulus2
1Department of Internal Medicine, 2Division of Nephrology, and 3Division of Hematology, Department of Internal Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey
IgA nephropathy (IgAN) is the most common primary glomerulonephritis, characterized by mesangial IgA immune complex deposition, potentially leading to chronic kidney disease. Idiopathic erythrocytosis, an unexplained elevation of red blood cell mass, has rarely been reported in association with IgAN. We present a systematic literature review and a new case highlighting the temporal relationship between IgAN and idiopathic erythrocytosis. A PubMed search identified four relevant studies detailing IgAN accompanied by unexplained erythrocytosis. The literature suggests an association predominantly observed in male patients, typically concurrent with or subsequent to an IgAN diagnosis. In our case, however, idiopathic erythrocytosis was detected 2 years prior to the onset of clinical signs of IgAN. The patient, initially treated with phlebotomy, presented 2 years later with significant proteinuria, leading to a renal biopsy confirming IgAN. This temporal progression raises the hypothesis that polymeric IgA1 immune complexes may influence erythropoiesis prior to evident renal involvement. Clinicians should consider underlying glomerular disease in patients with unexplained erythrocytosis, even in the absence of overt renal symptoms.Correspondence to:
Prof. Sinan Trabulus, MD, Division of Nephrology, Department of Internal Medicine, Istanbul University-Cerrahpasa, Cerrahpasa , Koca MustafaoasaCd. No. 53, 34096 Fatih/Istanbul, Turkey
Email: [email protected]
case studies
Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome
Dwarak Sampath Kumar, Mythri Shankar, and C.G. Sreedhara
Page No. 6
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (6-10)
Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome
Dwarak Sampath Kumar, Mythri Shankar, and C.G. Sreedhara
Department of Nephrology, Institute of Nephro-Urology, Bengaluru, Karnataka, India
Nail-patella syndrome (NPS) is an uncommon autosomal dominant condition marked by nail dysplasia, skeletal abnormalities, and variable renal manifestations, resulting from mutations in the LMX1B gene. We report a rare case of a 23-year-old male presenting with nephrotic-range proteinuria, characteristic skeletal manifestations of NPS, and a family history of renal failure. Genetic testing identified a previously unreported heterozygous missense variant in the homeodomain of LMX1B (c.791A>C; p.Gln264Pro), supporting its pathogenicity. The absence of patellar hypoplasia in our patient highlights the phenotypic variability of NPS. This case reinforces the importance of detailed physical examination and targeted genetic testing in diagnosing nephrotic syndromes.Correspondence to:
Mythri Shankar, MD, DNB (Nephrology), Department of Nephrology, Institute of Nephro-Urology, Bengaluru, Karnataka, India
Email: [email protected]
case studies
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review
Yue Yang, Ziyan Shen, Li Zhang, Wei Guo, Shaomin Gong, Jieru Cai, Jiayi Wang, Shuangxin Yuan, Xiaoqiang Ding, and Xiaoyan Zhang
Page No. 11
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (11-18)
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review
Yue Yang1,2,3, Ziyan Shen1,2,3,4, Li Zhang5, Wei Guo5, Shaomin Gong1,2,3,4, Jieru Cai1,2,3,4, Jiayi Wang1,2,3, Shuangxin Yuan1,2,3, Xiaoqiang Ding1,2,3,4, and Xiaoyan Zhang1,2,3,4
1Department of Nephrology, Zhongshan Hospital, Fudan University, 2Shanghai Institute of Kidney and Dialysis, 3Shanghai Key Laboratory of Kidney and Blood Purification, 4Shanghai Clinical Research Center for Kidney Diseases, and 5Department of Laboratory, Zhongshan Hospital, Fudan University, Shanghai, China
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.Correspondence to:
Dr. Xiaoyan Zhang, Department of Nephrology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China
Email: [email protected]
case studies
From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation
Joaquim Milheiro, Raquel Pinto, Catarina Veiga, Adriana Dias, Cátia Pêgo, and Sérgio Lemos
Page No. 19
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (19-23)
From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation
Joaquim Milheiro, Raquel Pinto, Catarina Veiga, Adriana Dias, Cátia Pêgo, and Sérgio Lemos
Nephrology Department, Local Health Unit Viseu Dão-Lafões, Viseu, Portugal
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.Correspondence to:
Joaquim Milheiro, MD, Nephrology Department, Local Health Unit Viseu Dão-Lafões, Av. Rei Dom Duarte, 3504-509 Viseu, Portugal
Email: [email protected]
case studies
Late-onset recurrent lupus nephritis in a kidney transplant recipient
Jessica K. Cobb, Paul Endres, Prashamsa Shenoy, Edward J. Filippone, Maitreyee Gupta, and Rakesh Gulati
Page No. 24
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (24-29)
Late-onset recurrent lupus nephritis in a kidney transplant recipient
Jessica K. Cobb2, Paul Endres2, Prashamsa Shenoy1, Edward J. Filippone1, Maitreyee Gupta1, and Rakesh Gulati1
1Department of Transplant Nephrology, and 2Department of Internal Medicine, Thomas Jefferson University Hospital, Philadelphia, PA, USA
Long-term kidney allograft survival continues to be a challenge, despite improvements in the short term. Recurrence of glomerular disease is a significant cause of allograft failure. We report a case of graft dysfunction 27 years post transplant attributed to biopsy-proven recurrent class IV lupus nephritis. Following targeted medication adjustments aimed at treating lupus nephritis, the patient achieved complete remission within 6 months, which has been sustained for 4 years. Although recurrent lupus nephritis is reported to occur up to 16 years after transplantation, it is uncommon, and represents a potentially treatable cause of graft failure. This report underscores the critical need for heightened awareness and prompt management of recurrent lupus nephritis regardless of the time post transplant to enhance long-term allograft survival. Furthermore, our case highlights that positive allograft staining in peritubular capillaries for C4d may result from recurrent immunecomplex disease as opposed to antibodymediated rejection.Correspondence to:
Dr. Jessica Cobb, 1199 Ludlow St. #1401, Philadelphia, PA 19107, USA
Email: [email protected]
case studies
A patient with Sagliker syndrome who underwent parathyroidectomy: A case report and literature review
Jianping Ren, Xinyu Li, Baoyu Zhao, Deguang Wang, and Xuerong Wang
Page No. 30
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (30-38)
A patient with Sagliker syndrome who underwent parathyroidectomy: A case report and literature review
Jianping Ren, Xinyu Li, Baoyu Zhao, Deguang Wang, and Xuerong Wang
Department of Nephrology, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China
Background: Sagliker syndrome (SS) is a rare yet severe complication of end-stage renal disease that is predominantly observed in patients who have undergone prolonged hemodialysis and develop secondary hyperparathyroidism (SHPT). SS is characterized by progressive craniofacial and maxillofacial bone deformities, such as mandibular widening, increased interdental spacing, and neuropsychiatric symptoms including anxiety, depression, and cognitive dysfunction. These manifestations significantly impair the quality of life of affected individuals. Case report: We report the case of a 42-year-old woman undergoing regular hemodialysis who was diagnosed with SHPT and SS. The patient was admitted to the hospital with a 3-year history of skeletal deformity. On December 29, 2012, she underwent total parathyroidectomy (PTx) with some parathyroid tissue transplanted to the left forearm. Over 12 years of regular follow-up, we found that clinical symptoms, such as facial deformity and bone pain, and laboratory indicators, including corrected serum calcium and phosphorus levels, significantly improved. Amazingly, the skull, which was altered in a “salt and pepper” pattern, improved significantly. Conclusion: After PTx in patients with SS, clinical symptoms and related laboratory indicators can be significantly improved, which is conducive to enhancing patient prognosis. Therefore, PTx should be performed in such patients as early as possible. However, further research is needed to develop a more standardized treatment plan for SS.Correspondence to:
Xuerong Wang, MD, Department of Nephrology, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China
Email: [email protected]
case studies
Co-prescription of metformin and glucagon-like peptide-1 receptor agonists and metformin-associated lactic acidosis: A case series
Hamed Hussain, Mustafa Ali, Koravich Lorlowhakarn, Maria Christina Capistrano, Vaidyanathapuram S. Balakrishnan, and Bertrand L. Jaber
Page No. 39
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (39-45)
Co-prescription of metformin and glucagon-like peptide-1 receptor agonists and metformin-associated lactic acidosis: A case series
Hamed Hussain1,4, Mustafa Ali1,4, Koravich Lorlowhakarn1,4, Maria Christina Capistrano1,2,4, Vaidyanathapuram S. Balakrishnan1,2,3,4, and Bertrand L. Jaber1,2,3,4
1Department of Medicine, 2Division of Nephrology, Boston Medical Center – Brighton, 3Department of Medicine, Tufts University School of Medicine, and 4Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA
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, glucagonlike 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.Correspondence to:
Bertrand L. Jaber, MD, 736 Cambridge Street, Brighton, MA, 02135 USA
Email: [email protected]
case studies
Giant mesenteric cyst of mesothelial origin as a rare late complication of previous peritoneal dialysis during hemodialysis
Sarra Hadded, Chayma Soltani, Wael Ferjaoui, Yosra Ben Ariba, and Jannet Laabidi
Page No. 46
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (46-50)
Giant mesenteric cyst of mesothelial origin as a rare late complication of previous peritoneal dialysis during hemodialysis
Sarra Hadded1,4, Chayma Soltani2, Wael Ferjaoui3,4, Yosra Ben Ariba2,4, and Jannet Laabidi2,4
1Department of Nephrology, Mongi Slim Hospital, 2Department of Nephrology, 3Department of General Surgery, Military Hospital of Tunis, and 4Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia
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.Correspondence to:
Sarra Hadded, MD, Department of Nephrology, Mongi Slim Hospital, Tunis, Tunisia
Email: [email protected]
case studies
Medium cut-off hemodialysis in multiple myeloma-associated cast nephropathy: A single-center experience
Ana Rita Ramos, Marisa Roldão, Rita Valério Alves, Rachele Escoli, and Paulo Santos
Page No. 51
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (51-57)
Medium cut-off hemodialysis in multiple myeloma-associated cast nephropathy: A single-center experience
Ana Rita Ramos, Marisa Roldão, Rita Valério Alves, Rachele Escoli, and Paulo Santos
Nephrology Department, Centro Hospitalar Médio Tejo – Torres Novas, Portugal
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 singlecenter 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.Correspondence to:
Ana Rita Ramos, Nephrology resident, Nephrology Department, Unidade Local de Saúde do Médio Tejo, Rua Xanana Gusmão 45, 2350-754, Torres Novas, Portugal
Email: [email protected]
case studies
A case of lupus nephritis in an art student
Kamyar Pournazari, Adrienne Flowers, Sarah H. Khan, Cinthia Drachenberg, and Valeriu Cebotaru
Page No. 58
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (58-62)
A case of lupus nephritis in an art student
Kamyar Pournazari1, Adrienne Flowers1, Sarah H. Khan1, Cinthia Drachenberg2, and Valeriu Cebotaru1,3
1Division of Nephrology, Departments of Medicine, 2Department of Pathology, University of Maryland School of Medicine, and 3Division of Nephrology, Departments of Medicine, Baltimore VAMC, Baltimore, MD, USA
Systemic lupus erythematosus (SLE) is a complex autoimmune disease that can be triggered by environmental factors. We report a novel case of a 22-year-old female that was exposed to volatile organic solvents (VOCs) while diluting oil-based paint colors prior to presenting with nephrotic syndrome and acute kidney injury, later confirmed as class IV lupus nephritis (LN). Multidisciplinary management resulted in significant clinical improvement, with a return to normal renal function and stabilization of SLE markers. This case highlights possible association between VOCs exposure and LN.Correspondence to:
Valeriu Cebotaru, Division of Nephrology, Departments of Medicine, University of Maryland School of Medicine, 22 S. Greene St., Room N3W143, Baltimore, MD 21201, USA
Email: [email protected]
case studies
New-onset lupus nephritis and neuropsychiatric lupus following COVID-19 vaccination: A case report
Paulo Simão, Micael Pompermayer, Joana Coutinho, and Ernesto Rocha
Page No. 63
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (63-68)
New-onset lupus nephritis and neuropsychiatric lupus following COVID-19 vaccination: A case report
Paulo Simão1, Micael Pompermayer2, Joana Coutinho2, and Ernesto Rocha2
¹Department of Internal Medicine, Hospital Pêro da Covilhã, Unidade Local de Saúde da Cova da Beira, Covilhã, and ²Department of Nephrology, Unidade Local de Saúde de Castelo Branco, Castelo Branco, Portugal
Although COVID-19 mRNA vaccines have demonstrated excellent safety profiles, rare autoimmune complications – including new-onset systemic lupus erythematosus (SLE) and lupus nephritis (LN) – have been reported. We describe a case of new-onset class IV LN with neuropsychiatric lupus (NPSLE) occurring shortly after COVID-19 vaccination in a previously healthy adult. This case highlights a rare presentation of new-onset SLE manifesting with both severe renal and neuropsychiatric involvement following COVID-19 mRNA vaccination. While causality cannot be established, the temporal association and absence of alternative triggers suggest vaccine-induced immune dysregulation as a potential precipitating factor. Awareness of such atypical presentations may facilitate earlier diagnosis and management, although these events remain exceedingly uncommon relative to the overwhelming benefits of vaccination.Correspondence to:
Paulo Simão, MD, Department of Internal Medicine, Hospital Pêro da Covilhã, Unidade Local de Saúde da Cova da Beira, Quinta do Alvito, 6200-251 Covilhã, Portugal
Email: [email protected]
case studies
Rapidly progressive glomerulonephritis revealing the coexistence of diabetic nephropathy, membranous nephropathy, and MPO-ANCA-associated crescentic glomerulonephritis
Sarra Hadded, Rania Kandil, Hanene Gaied, Marwa Trabelsi, Raja Aoudia, Meriam Khadhar, Mouna Jerbi, and Rim Goucha
Page No. 69
Abstract
Clinical Nephrology – Case Studies, Vol. 14/2026 (69-74)
Rapidly progressive glomerulonephritis revealing the coexistence of diabetic nephropathy, membranous nephropathy, and MPO-ANCA-associated crescentic glomerulonephritis
Sarra Hadded1,2,3, Rania Kandil1, Hanene Gaied1,2,3, Marwa Trabelsi1,2,3, Raja Aoudia1,2,3, Meriam Khadhar1,2,3, Mouna Jerbi1,2,3, and Rim Goucha1,2,3
1Department of Nephrology, Dialysis, and Kidney Transplantation, Mongi Slim Hospital, 2Faculty of Medicine, University of Tunis El Manar, and 3Laboratory of Renal Pathology, Charles Nicolle Hospital, Tunis, Tunisia
Diabetic nephropathy (DN) is the leading cause of chronic kidney disease worldwide. However, Patients with diabetes presenting with atypical renal manifestations may harbor superimposed non-diabetic kidney disease, making kidney biopsy essential for accurate diagnosis. Although cases of DN coexisting with either membranous nephropathy (MN) or MPO-ANCA-associated vasculitis have been reported, the concurrent occurrence of all three entities is exceptionally rare. We report the case of a 59-year-old man with a 20-year history of poorly controlled type 2 diabetes mellitus, diabetic retinopathy, hypertension, and chronic kidney disease attributed to DN, who presented with rapidly progressive kidney dysfunction. Serum creatinine increased from a baseline of ~ 220 to 560 μmol/L, accompanied by nephrotic-range proteinuria (9 g/day) and microscopic hematuria. Immunological testing demonstrated strongly positive MPO-ANCA (120 U/mL by ELISA), whereas PR3-ANCA, anti-glomerular basement membrane, antinuclear, and anti-phospholipase A2 receptor antibodies were negative. Kidney biopsy demonstrated nodular diabetic glomerulosclerosis, membranous nephropathy, and pauci-immune crescentic glomerulonephritis consistent with MPO-ANCA-associated vasculitis. Treatment with intravenous methylprednisolone, oral prednisone, and two 1-g infusions of rituximab resulted in partial recovery of kidney function, allowing discontinuation of temporary hemodialysis and stabilization of serum creatinine at ~ 300 μmol/L. This case highlights the indispensable role of kidney biopsy in diabetic patients with rapidly progressive kidney dysfunction and illustrates the diagnostic and therapeutic implications of identifying multiple coexisting glomerular diseases.Correspondence to:
Sarra Hadded, MD, Department of Nephrology, Mongi Slim Hospital, Tunis, Tunisia
Email: [email protected]
