Case Reports in Nephrology and Dialysis最新文献

{"title":"Hydroxychloroquine-Induced Renal Phospholipidosis: Case Report and Review of Differential Diagnoses","authors":"Amélie Friederike Menke, B. Heitplatz, V. van Marck, Hermann Pavenstädt, Ulrich Jehn","doi":"10.1159/000536448","DOIUrl":"https://doi.org/10.1159/000536448","url":null,"abstract":"Abstract Introduction Renal phospholipidosis describes the accumulation of phospholipids in the lysosomes of kidney cells, in particular podocytes. Originally, this was described primarily in the context of the lysosomal storage disorder Fabry disease. It is now known that a variety of drugs can lead to the accumulation of lysosomal phospholipids. Case Presentation We present the case of a 69-year-old female patient suffering chronic kidney disease and systemic lupus erythematosus who underwent a kidney biopsy because of a further increase in serum creatinine levels. There was no evidence of lupus nephritis, but electron microscopy showed zebra bodies as a morphological sign of phospholipidosis. This was most likely drug-induced after 25 years of continuous medication with hydroxychloroquine. A renal biopsy 2 years and 6 months earlier, when the renal function of the patient was distinctively better, showed no signs of renal phospholipidosis. Afterward, medication with hydroxychloroquine was discontinued, and renal function parameters remained stable in the 1-year course. Conclusion This case raises the question of how severely impaired renal function affects the risk of hydroxychloroquine-induced renal phospholipidosis and underlines that hydroxychloroquine should be administered with caution in patients with kidney insufficiency. Moreover, we provide a review of the causes of renal phospholipidosis, which have been described in the literature and give an overview of possible differential diagnoses in cases with histologically proven phospholipidosis in renal biopsies.","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"321 19","pages":"20 - 29"},"PeriodicalIF":0.7,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139833593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preservation of Peritoneal Dialysis in Liver Surgery with Robotic Technique: A Case Report.","authors":"Paolo Ria, Stefano Garritano, Vilma Martella, Antonio De Pascalis, Anna Zito, Marcello Napoli, Marcello Spampinato, Stefano D'Ugo","doi":"10.1159/000536139","DOIUrl":"10.1159/000536139","url":null,"abstract":"<p><strong>Introduction: </strong>During the last year, the features of peritoneal dialysis patients have changed, and the cases in which there is a need to perform abdominal surgery are growing. Reports of abdominal surgery in patients who are able to continue peritoneal dialysis are increasing. The minimally invasive techniques represent the preferred and safest approach. Such techniques are associated with reduced hospitalization time, less invasiveness, peritoneal integrity preservation, and reduced intra-abdominal inflammation due to regenerative processes.</p><p><strong>Case presentation: </strong>In this case report, we present a case of major abdominal surgery, in the form of hepatic metastasectomy, performed with the robotic-assisted technique, which allowed catheter and intracorporeal dialysis preservation. The patient showed a strong determination to continue with peritoneal dialysis as long as possible. During the switch to hemodialysis, he performed prophylactic antibiotic therapy to preserve the peritoneal catheter, and the patient was instructed to have a reduced water intake, avoiding excessive ultrafiltration potentially deteriorating the residual renal function. Special care was also taken to avoid any nephrotoxic drug. The peritoneal treatment was restarted after 3 weeks with low volume exchange for the first 10 days, and the pre-surgery dialysis volumes were then re-established. After surgery, the patient showed adequate clearance of solutes and ultrafiltration similar to the preoperative period. The patient did not encounter any wound complications.</p><p><strong>Conclusion: </strong>Robotic surgery represents a further aid in peritoneal dialysis preservation after abdominal surgery. A detailed communication with the patient before performing this kind of procedure and a strong will to preserve the peritoneal method are essential.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"15-19"},"PeriodicalIF":0.7,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139650300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relapsing Peritoneal Dialysis-Associated Peritonitis due to <i>Kocuria rhizophila</i>: A Case Report.","authors":"Mayumi Nakata, Hiroshi Kuji, Takumi Toishi, Tomohiko Inoue, Atsuro Kawaji, Masatoshi Matsunami, Junko Fukuda, Mamiko Ohara, Tomo Suzuki","doi":"10.1159/000534765","DOIUrl":"10.1159/000534765","url":null,"abstract":"<p><strong>Introduction: </strong>The <i>Kocuria</i> genus, encompassing gram-positive coccoid actinobacteria belonging to the Micrococcaceae family, has recently been discovered residing on the human skin and oral flora. Reports of <i>Kocuria</i>-associated infections in humans have been scarce. Herein, we present the first case of relapsing peritoneal dialysis (PD)-associated peritonitis caused by <i>Kocuria rhizophila</i>.</p><p><strong>Case presentation: </strong>The patient, a 78-year-old male, presented with turbid effluent PD fluid, accompanied by an elevated white blood cell count of 253 cells/μL, of which 59% were neutrophils. A diagnosis of PD-associated peritonitis was established, leading to the initiation of intraperitoneal administration of ceftazidime and vancomycin. Subsequently, <i>Kocuria rhizophila</i> was identified through the bacterial culture of the dialysate. On the seventh day of initial treatment, the antibiotic regimen was changed to penicillin G, and the patient underwent a 3-week course of antibiotics. However, 1 week after discharge, the patient's dialysis fluid became cloudy once again, with subsequent detection of <i>Kocuria rhizophila</i> in the fluid culture. Ultimately, the decision was made to remove the patient's PD catheter and transition to hemodialysis.</p><p><strong>Conclusion: </strong>PD-associated peritonitis attributed to <i>Kocuria species</i> may be considered a potential risk for recurrence.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"10-14"},"PeriodicalIF":0.7,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10764085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139097395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Digenic Variants in <i>COL4A4</i> and <i>COL4A5</i> Causing X-Linked Alport Syndrome: A Case Report.","authors":"Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto","doi":"10.1159/000535493","DOIUrl":"10.1159/000535493","url":null,"abstract":"<p><strong>Introduction: </strong>Alport syndrome (AS) is a hereditary, progressive kidney disease characterized by structural abnormalities and dysfunction of the glomerular basement membrane (GBM). AS is classified as X-linked, autosomal, and digenic. The number of cases of digenic AS has increased, but the genotype-phenotype correlation of patient with digenic AS is still unclear. Here, we present a case of digenic AS with novel digenic missense variants in <i>COL4A4</i> (c.827G>C, p.Gly276Ala) and <i>COL4A5</i> (c.4369G>C, p.Gly1457Arg).</p><p><strong>Case presentation: </strong>The patient was a 29-year-old Japanese man suffering from persistent microscopic hematuria and proteinuria without kidney function impairment. Kidney biopsy showed focal interstitial foam cell infiltration, global and segmental glomerulosclerosis. Immunofluorescence staining for collagen IV α5 was almost negative in the GBM and Bowman's capsule. Electron microscopy revealed irregular thickening with lamellation and segmental thinning of the GBM. Clinical and pathological findings were consistent with AS. Comprehensive next-generation sequencing revealed a heterozygous missense variant in <i>COL4A4</i> (c.827G>C, p.Gly276Ala) in exon 1 and a hemizygous missense variant in <i>COL4A5</i> (c.4369G>C, p.Gly1457Arg) in exon 49 on the patient's paternal and maternal alleles, respectively. The same digenic variants were detected in his sister, and she also showed a similar phenotype. After treatment with angiotensin-converting enzyme inhibitors, proteinuria decreased from 2.3 to 1.1 g/g creatinine, but occult blood persisted. During follow-up, kidney function has been preserved.</p><p><strong>Conclusion: </strong>The novel genotype of our case provides more information on the genotype-phenotype correlation of digenic XLAS, although long-term follow-up is required. The findings in the present case also indicate the importance of genetic tests for family members of a patient diagnosed with digenic AS.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"1-9"},"PeriodicalIF":0.7,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10764090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139097394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Matter of Kidney Biopsy in Monoclonal Gammopathy of Renal Significance: A Case Report of a New Pattern of Immunoglobulin-Storing Histiocytosis.","authors":"Paolo Randone, Manuel Burdese, Antonella Barreca, Stefania Oliva, Enrico Sanna, Isabella Abbasciano, Patrizia Anania, Elena Boaglio, Luigi Biancone","doi":"10.1159/000533913","DOIUrl":"10.1159/000533913","url":null,"abstract":"<p><p>Monoclonal gammopathy of renal significance (MGRS) represents a group of disorders, characterized by paraproteinemia which causes renal damage. These disorders never meet the diagnostic criteria for multiple myeloma (MM) or lymphoproliferative disease. Crystal-storing histiocytosis is one of the rarest patterns of MGRS, characterized by an accumulation of light chains of crystals within histiocyte's cytoplasm, located in bone marrow or other extramedullary sites such as the kidney, cornea, or thyme. A very few cases have been described as immunoglobulin-storing histiocytosis (IgSH) without evidence of crystals. In the recent literature, only 3 cases of IgSH have been described so far, none renal. In all cases, these very peculiar histopathological patterns are associated with lymphoproliferative or plasma cellular disorders. Here, we report a very unusual IgSH pattern in a kidney biopsy, which led to prompt detection and early therapeutic intervention, in a patient with otherwise misdiagnosed MGRS.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"191-196"},"PeriodicalIF":0.7,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10723809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bone Mineral Parameters in Peritoneal Dialysis Patients after Lowering Calcium Concentration in Dialysis Fluids: A Case Series in Patients Using Icodextrin.","authors":"Lara C Verschuur, Anouschka G Liefting, Bastiaan van Dam, Erik L Penne, Fenneke C Frerichs","doi":"10.1159/000534476","DOIUrl":"10.1159/000534476","url":null,"abstract":"<p><p>In patients treated with peritoneal dialysis (PD), lowering the calcium level in PD fluids results in lower serum calcium levels and higher parathyroid hormone (PTH) levels. It is hypothesized that this effect is attenuated when patients are using icodextrin 7.5% for the once-daily long dwell (containing high calcium concentration). In this case series, we included 8 stable PD patients (mean age 68 ± 13 years, 7 male), all using icodextrin 7.5% (containing 1.75 mmol/L calcium) for the once-daily long dwell. The calcium content of the PD fluids for the remaining dwells was lowered from 1.75 mmol/L to 1.25 mmol/L. Bone mineral parameters and phosphate prescription at baseline, 6 weeks after this change, and after 6 months were compared. After lowering calcium concentration of the PD fluids - except for the icodextrin 7.5% - from 1.75 mmol/L to 1.25 mmol/L, calcium levels changed from 2.32 ± 0.11 to 2.29 ± 0.12 (<i>p</i> = NS); intact PTH (iPTH) from 39.6 ± 28.3 to 64.9 ± 34.5 pmol/L (<i>p</i> = 0.045); and alkaline phosphatase from 104.13 ± 48.75 to 101.38 ± 32.39 (<i>p</i> = NS). After 6 months, all bone mineral parameters were similar to baseline levels; however, slightly higher calcium-based phosphate binders were prescribed. Lowering calcium content from 1.75 mmol/L to 1.25 mmol/L in PD fluids in patients on icodextrin resulted in stable calcium values, a temporal increase in iPTH and a modest increase in calcium-based phosphate binder prescription. Using icodextrin for the long once-daily dwell appears to attenuate the effects on bone mineral parameters when lowering the calcium concentration of the short dwells.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"184-190"},"PeriodicalIF":0.7,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10631776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-Organ Relapse following COVID-19 in Myeloperoxidase-Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis: A Case Report.","authors":"Won-Hee Cho,&nbsp;Seo Yeon Hwang,&nbsp;Sun Ryoung Choi,&nbsp;Biro Kim,&nbsp;Joune Seoup Lee,&nbsp;Dong Gun Lee,&nbsp;Hyun Soon Lee","doi":"10.1159/000534331","DOIUrl":"https://doi.org/10.1159/000534331","url":null,"abstract":"<p><p>Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a complex systemic autoimmune disease characterized by small vessel vasculitis. Typically, the relapse rate is lower in patients with end-stage kidney disease (ESKD) than in those with chronic kidney disease, prior to dialysis. Here, we report a rare case of multi-organ relapse in a patient with myeloperoxidase (MPO)-AAV who underwent hemodialysis following coronavirus disease 2019 (COVID-19). A man in his 70s with type 2 diabetes and hypertension was undergoing maintenance hemodialysis for ESKD resulting from MPO-AAV glomerulonephritis. Following severe acute respiratory syndrome coronavirus 2 infection, the patient was hospitalized for persistent nausea and vomiting. No significant findings were observed, including in endoscopy. However, the patient experienced severe symptoms that hindered oral intake and was refractory to pharmacological therapy. Additionally, despite receiving antibiotics and antituberculosis treatment, the patient experienced persistent unexplained pleural effusion. Moreover, the patient's level of consciousness rapidly deteriorated during hospitalization. Although C-reactive protein levels and MPO-ANCA titers were elevated, no evidence of infection was detected on brain imaging or cerebrospinal fluid analysis. Therefore, we diagnosed this case as a relapse of AAV and promptly administered methylprednisolone pulse therapy and rituximab. Subsequently, all aforementioned symptoms in the patient improved, and the current ANCA levels remain negative. Thus, the relapse of AAV after COVID-19 is rare; however, it can present in several ways in patients undergoing dialysis. Therefore, clinicians should closely monitor ANCA titers and subtle symptoms, even in patients with dialysis-dependent AAV.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"173-183"},"PeriodicalIF":0.7,"publicationDate":"2023-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71478412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to <i>AVPR2</i> Nonsense Mutations and Different Clinical Manifestations: A Case Report.","authors":"Hijiri Watanabe, Hiroshi Tamura, Keishiro Furuie, Shohei Kuraoka, Hitoshi Nakazato","doi":"10.1159/000533895","DOIUrl":"10.1159/000533895","url":null,"abstract":"<p><p>Congenital nephrogenic diabetes insipidus (CNDI), a rare hereditary disorder, is characterized by the inability of the kidneys to concentrate urine in response to the antidiuretic hormone arginine vasopressin (AVP); as a result, large volumes of unconcentrated urine are excreted. In addition to the clinical manifestations of CNDI, such as dehydration and electrolyte disturbances (hypernatremia and hyperchloremia), developmental delay can result without prompt treatment. In approximately 90% of cases, CNDI is an X-linked disease caused by mutations in the arginine vasopressin receptor 2 (<i>AVPR2</i>) gene. In approximately 9% of cases, CNDI is an autosomal recessive disease caused by mutations in the water channel protein aquaporin 2 (<i>AQP2</i>), and 1% of cases are autosomal dominant. We report a case of CNDI caused by a novel <i>AVPR2</i> nonsense mutation, c.520C>T (p.Q174X), and cases of siblings in another family who had a different <i>AVPR2</i> nonsense mutation, c.852G>A (p.W284X). Both cases responded well to treatment with hydrochlorothiazide and spironolactone. If CNDI is suspected, especially in carriers and neonates, aggressive genetic testing and early treatment may alleviate growth disorders and prevent irreversible central nervous system disorders and developmental delay.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"162-172"},"PeriodicalIF":0.7,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Venous Excess Doppler Ultrasound: A Visual Guide to Decongestion in Cardiorenal Syndrome.","authors":"Sirisha Gudlawar,&nbsp;Abhilash Koratala","doi":"10.1159/000531709","DOIUrl":"https://doi.org/10.1159/000531709","url":null,"abstract":"<p><p>Promptly recognizing congestion, both clinical and hemodynamic, is paramount in the management of patients with heart failure. The pathophysiology of congestion involves a complex interplay of absolute fluid gain, volume redistribution from venous capacitance beds to the central venous circulation, inadequate excretion due to renal dysfunction, salt and water retention, and endothelial dysfunction. While congestive nephropathy is gaining wider recognition as a distinct variant of hemodynamic acute kidney injury (AKI), there are limited bedside diagnostic tools for proper evaluation of these patients. In this manuscript, we describe a case of AKI where POCUS helped us diagnose clinically silent congestion as well as monitor the response to therapy. A patient with heart failure with mildly reduced ejection fraction was initially administered intravenous fluids for rise in serum creatinine attributed to volume depletion. However, POCUS demonstrated a completely different scenario with severe venous congestion. Both sonographic stigmata of congestion and serum creatinine improved with diuretic therapy. Furthermore, serial venous excess Doppler ultrasound scans facilitated the visualization of decongestion in real time.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"156-161"},"PeriodicalIF":0.7,"publicationDate":"2023-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.","authors":"Limin Huang,&nbsp;Xiaojing Zhang,&nbsp;Yingying Zhang,&nbsp;Yanfei Wang,&nbsp;Jianhua Mao","doi":"10.1159/000533580","DOIUrl":"https://doi.org/10.1159/000533580","url":null,"abstract":"<p><p>Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the <i>WDR73</i> gene, and more recently, four new pathogenic genes, <i>OSGEP, LAGE3, TP53RK,</i> and <i>TPRKB</i>, have been identified. In the present study, we report a new mutation of c.290T>G (p.L97R) <i>LAGE3</i> in a 4-year-old boy with specific urological and nephrological complications. The patient presented with early-onset proteinuria, brain atrophy, delayed language and motor development, and axial hypotonia. This patient also had mutations in two other genes: <i>TRPC6</i> and <i>NUP160</i>, make the clinical presentation of this patient more diverse. Our novel findings add to the spectrum of pathogenic variants in the <i>LAGE3</i> gene. In addition, early genetic diagnosis of GAMOS is essential for genetic counseling and prenatal care.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"148-155"},"PeriodicalIF":0.7,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}