A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature

Background. Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly1436del) in the COL4A4 gene that was not unveiled until her first pregnancy. Within the 29th pregnancy week, our patient presented with massive proteinuria and nephrotic syndrome. Light microscopic examination of a kidney biopsy showed typical histological features of segmental sclerosis, and electron microscopy revealed extensive podocyte alterations as well as thickness of glomerular basement membranes with splitting of the lamina densa. One and a half years after childbirth, renal function deteriorated to a preterminal stage, whereas nephrotic syndrome subsided quickly after delivery. Conclusion. This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.

Anaphylactic Reactions Caused by Nafamostat Mesylate during Hemodialysis before Surgery for Carpal Tunnel Syndrome

Nafamostat mesylate (NM) has been used to treat pancreatitis and disseminated intravascular coagulation during hemodialysis (HD). However, there have been some reports of adverse effects related to anaphylactic reactions. We present a case in which anaphylactic reactions caused by NM during preoperative HD caused repeated postponement of surgery for carpal tunnel syndrome. Symptoms including fever, shivering, chills, low blood pressure, tachycardia, nausea, and vomiting appeared during preoperative HD, and surgery was postponed thrice. Initially, the patient was misdiagnosed with sepsis because of elevated C-reactive protein and procalcitonin levels. However, since the symptoms appeared only when NM was administered and disappeared quickly after the administration of NM was terminated, the condition was diagnosed as anaphylactic reactions caused by NM. Therefore, it is essential to consider anaphylactic reactions caused by NM as differential diagnoses, when symptoms, such as fever, are observed during perioperative HD.

An Interesting Case of Nonlupus Full-House Nephropathy

Full-house immunofluorescence and endothelial tubuloreticular inclusions are known as characteristic features of lupus nephritis. However, both features are not pathognomonic for lupus nephritis. A kidney biopsy specimen showing full-house immunofluorescence pattern in the absence of autoantibodies and classical clinical features of Systemic Lupus Erythematosus (SLE) is now considered as nonlupus full-house nephropathy (FHN). Nonlupus FHN may be idiopathic or due to other disease processes known as secondary nonlupus FHN. Here, we report the case of a 36-year-old female who presented with nephrotic proteinuria with bland urine sediment. Additional analyses revealed normal serum antinuclear antibody (ANA), normal anti-double-stranded DNA (anti-dsDNA) antibodies, and normal serum C3 and C4 levels. A renal biopsy showed a normal-appearing glomerulus without any proliferation or capillary wall thickening and widespread glomerular immune deposits (full-house effect; IgA, IgG, IgM, C3, and C1Q) on direct immunofluorescence. Renal electron microscopy showed diffuse effacement of visceral epithelial cell foot processes and mesangial electron dense deposits. The patient was diagnosed as nonlupus FHN. There is a controversial role of steroids and other immunosuppressive drugs in the treatment of nonlupus FHN patients, but our case patient responded favourably to steroid therapy. The term nonlupus FHN can be used as an umbrella term for patients who do not satisfy the clinical and serological criteria of SLE.

From the Old, the Best: Parathyroidectomy in the Management of Soft-Tissue and Vascular Calcification in Patients with Chronic Renal Disease

Introduction. Bone mineral disease in patients with chronic kidney disease (CKD-MBD) is a clinical syndrome involving bone, biochemical changes, and extraosseous calcification. These complications increase morbidity and mortality. Prevalence reports are rare. Case Report. This case shows a young woman on peritoneal dialysis (PD) for 10 years with severe secondary hyperparathyroidism and soft-tissue calcifications in the hands, pelvis, and right knee, as well as severe vascular calcification, managed with calcimimetics without success. We decided to perform subtotal parathyroidectomy (STPTX). Three months after surgery, she had satisfactory evolution, despite notable hungry bone disease, without bone pain or functional limitation and almost no calcifications. Discussion. The benefit of hemodialysis has been shown with better volume management and improvement of calcium/phosphate products. STPTX allowed biochemical control and calcification improvement, with an evident better quality of life for our patient. Therapeutic alternatives need to be tailored to the patient’s characteristics in the calcimimetics era.

Roseomonas mucosa-Induced Peritonitis in a Patient Undergoing Continuous Cycler Peritoneal Dialysis: Case Report and Literature Analysis

Roseomonas species, a rare Gram-negative microorganism, has seldom been reported to cause peritonitis in end-stage renal disease patients on peritoneal dialysis. Only seven cases of peritonitis by this rare microorganism have been reported worldwide. Treatment options can be challenging if not detected early and can lead to significant morbidity and mortality along with the switching of the dialysis modality to hemodialysis which is highly undesirable. Our patient is a 65-year-old Caucasian female who needed to be changed to emergency hemodialysis due to inability to perform peritoneal dialysis from suspected peritonitis and was subsequently discovered to have peritonitis from Roseomonas mucosa. She recovered with a prolonged antibiotics course and returned to peritoneal dialysis in 3 months following her treatment completion. Prompt diagnosis and prolonged antibiotics are a cornerstone in the management of this rare microorganism to prevent mortality and morbidity from peritonitis.

Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background

We report the case of a patient with complement factor H gene variant, who developed thrombotic microangiopathy on a mixed clinical background. A 79-year-old woman was transferred to Sanjo General Hospital for maintenance hemodialysis. She suffered from gastric non-Hodgkin lymphoma about two years ago and received chemotherapy and radiation therapy, leading to complete remission. About 13 weeks prior to her transfer to our hospital, she was referred to another hospital due to acute kidney injury, hemolytic anemia, and thrombocytopenia. Hemodialysis was immediately initiated, after which intravenous methylprednisolone and oral prednisolone were started; however, she became anuric within approximately week. The possibility of thrombotic microangiopathy was examined. However, she was in poor general condition and did not get the consent of her family, so no invasive searches such as a kidney biopsy were performed. Despite the cause of acute kidney insufficiency being unclear, she was transferred to us for maintenance hemodialysis. Her general condition was stable, and her renal function improved; hence, two months after transfer, a kidney biopsy was performed. Her clinical and typical renal histological findings indicated a diagnosis of thrombotic microangiopathy. There was a possible CFH gene of a very rare variant “c.526 T > C (p.Phe176Leu)” in exon 5. She was able to withdraw from hemodialysis therapy two weeks after the initiation of an angiotensin-converting enzyme inhibitor. Based on her clinical course and kidney biopsy findings, she was diagnosed with thrombotic microangiopathy with a very rare CFH variant. To ensure proper treatment choices such as eculizumab, the presence of complement dysregulation should be considered in cases of secondary thrombotic microangiopathy.

“Recurrent Papillary Necrosis and Nephrocalcinosis Induced by Nonsteroidal Anti-Inflammatory Drugs for Gouty Arthritis Associated with Congenital Chloride-Losing Diarrhea: A Major Risk for Kidney Loss”

Congenital chloride-losing diarrhea (CCLD) is a rare genetic disorder due to autosomal recessive mutation in the SLC26A3 gene on chromosome 7. It is characterized with chronic watery diarrhea with high fecal chloride (Cl: >90 mmol/L), low potassium (K), and metabolic alkalosis with low urinary Cl and K. The overall long-term prognosis is favorable with optimal life-long salt and K supplementation. In this case report, we describe a man with progressive renal failure and small kidneys that showed nephrocalcinosis and papillary necrosis. His disease was diagnosed since birth and was confirmed by our tests. He was incompliant with therapy and had developed gout. The latter complication of his disease has led to excessive NSAID use over the past years. Reinstitution of diet, drug therapy, and allopurinol had stabilized his renal disease for 1 year of follow-up. In conclusion, excessive analgesic use is a risk factor for renal failure in CCLD.

Acute Esophageal Necrosis Early after Renal Transplantation

Background. Acute esophageal necrosis (AEN) is defined as a diffused black discoloration of the esophageal mucosa involving mainly the distal part of the esophagus. It is considered a rare clinical entity with a high mortality rate. The etiology of AEN is unknown, but it has been correlated to many causes such as malignancies, infections, and hemodynamics instability. Here, we report a case of a patient developing AEN a few days after kidney transplantation. Case Presentation. A 57-year-old male was admitted electively for kidney transplantation that he received from his son. The surgery was complicated with a significant drop in blood pressure but otherwise was uneventful. The patient was showing good signs of recovery but then suffered from significant hematemesis. An urgent upper esophagogastroduodenoscopy revealed black discoloration of the esophageal mucosa in keeping with AEN. The patient was treated with proton pump inhibitors infusion and started empirically on antivirals and antifungals. The patient’s condition improved in regards to the AEN; nonetheless, the complications resulted in graft loss, and the patient returned to hemodialysis. Conclusion. AEN is a critical condition that mandates early intervention. Identifying high-risk populations may aid in early anticipation and diagnosis. Patients with chronic kidney disease are at risk of atherosclerosis leading to a low flow state which is exacerbated during renal transplantation surgery, especially if the procedure was complicated with a drop in blood pressure.

Highest Recorded Serum Creatinine

Serum creatinine is a commonly used laboratory marker to assess kidney function; however, there has not been an established level of serum creatinine to predict mortality. After extensive literature review, we present a case of the highest recorded serum creatinine of 73.8 mg/dL in a 23-year-old male with the history of pediatric deceased donor kidney transplant (DDKT). He initially presented with uremia and signs of acute renal allograft failure after two months of immunosuppressive medication nonadherence, ultimately requiring emergent hemodialysis, which was complicated by new onset seizures. This was the patient’s fourth episode of late acute rejection and emphasizes the need for education of immunosuppressant adherence and periodic monitoring of renal function in high-risk patients. Though there is no known creatinine level incompatible with life, this patient appears to have the highest known serum creatinine in a uremic patient on record.

Can Antinuclear Antibodies (ANA) be Monoclonal?

Background. Nuclear staining by immunofluorescence in a kidney biopsy is often seen in patients with positive antinuclear antibodies (ANA) in the serum. These ANA are usually polyclonal, but herein we report 9 cases with an unusual finding of monoclonal nuclear staining by immunofluorescence on kidney biopsy. Case Presentation. Nine cases with predominant stain for kappa or lambda light chain were identified by searching the renal pathology laboratory database for the past 10 years. All cases had positive stain for only kappa (six cases) or lambda (three cases) light chain in the nuclei. Eight out of nine cases had positive nuclear IgG stain, and one case had positive nuclear IgA stain. Among cases with positive nuclear IgG staining, six cases were positive for IgG1 subclass, one case was positive for IgG2 subclass, and one case was positive for IgG3 subclass. All patients with positive IgG nuclear stain, who had testing for ANA, had positive ANA. Patients with positive IgG1 subclass did not have monoclonal protein in the serum or urine, but the patient with positive IgG2 subclass and lambda light chain stain in the nuclei had IgG lambda monoclonal gammopathy. Conclusions. We identified a new unique pattern of nuclear stain by immunofluorescence in kidney biopsies that suggests the presence of monoclonal ANA. Workup for underlying monoclonal gammopathy is warranted in such patients.