A Rare Case Report of Fanconi Anemia-Associated Nuclease 1 Mutation Causing Nephrotic Syndrome.

A 25-year-old African male patient presented with a history of frothy urination for one month. He had a significant family history of early onset chronic kidney disease (CKD) in his older brother. On evaluation, he was found to have deranged renal function and nephrotic-range proteinuria of 6152 mg/day. Urine examination revealed proteinuria and glycosuria. Viral serology and autoimmune screening results were negative. Ultrasonography revealed contracted kidneys that were not amenable to biopsy. Genetic analysis revealed a Fanconi anemia-associated nuclease 1 (FAN 1) mutation in exon 4 (c.1399G>A) and exon 12 (c.2786A>C). The patient was managed conservatively with a maximum dose of angiotensin receptor blockers with a reduction in proteinuria on follow-up. This case report highlights the rare manifestation of FAN 1 mutation and its variable effects on the kidney.

A Rare Case of Atypical Hemolytic Uremic Syndrome Presenting as Chronic Interstitial Nephritis.

Atypical hemolytic uremic syndrome commonly presents as rapidly progressive renal failure and is histologically characterized by thrombotic microangiopathy (TMA). TMA presenting with acute renal failure requires aggressive medical management. Here, we present a case of a 30-year-old man who presented with a history of accelerated hypertension and a strong family history of end-stage renal disease, in September 2023. Upon evaluation, he was found to have a creatinine level of 2 mg/dl, bland urine and normal-sized kidneys; a renal biopsy revealed chronic interstitial nephritis. Genetic analysis for autosomal dominant tubulointerstitial kidney disease and nephronophthisis yielded negative results. The patient was managed with antihypertensive medications. In January 2024, he was admitted with a history of confusion, headache, and alcohol binge. He had a blood pressure of 200/100 mmHg and had grade 3 hypertensive retinopathy. Laboratory tests revealed anemia with thrombocytopenia, bland urine, normal coagulation parameters, indirect hyperbilirubinemia, normal-sized kidneys on ultrasound, and elevated lactate dehydrogenase levels. MRI of the brain revealed symmetrical hyperintensities in bilateral cerebellum and the dorsal brainstem. Complement levels revealed low C3 levels and genetic analysis revealed a homozygous deletion in the complement factor H-related 3 (CFHR3) gene. The autoantibody for complement factor H was negative. The patient was managed conservatively with adequate blood pressure control. This case highlights the effects of complement dysregulation on the renal tubulointerstitium.

Hashimoto's thyroiditis masquerading as acute tubular injury and rhabdomyolysis.

Hashimoto's thyroiditis manifesting as hypothyroidism has been implicated in glomerular disorders due to autoantibody formation. Here we present the case of a 26-year-old male without any comorbidities presenting with easy fatiguability and weight gain for 2 months. He was found to have a creatinine of 2.1 mg/dL with a history of rhinitis treated with anti-histaminic three days prior to the hospital visit. He had symptoms of intermittent myalgia for the past two weeks. On laboratory evaluation, he was found to have raised CPK, elevated TSH, low normal T4, and positive anti-TPO and anti-Tg antibodies. Neck ultrasound revealed linear echogenic septations in the thyroid gland. Renal biopsy revealed acute tubular injury. Appropriate thyroxine supplementation was started and his creatinine decreased to 1.2 mg/dL after 1 month. It is important that clinicians should be aware of this rare kidney presentation in Hashimoto's thyroiditis.

An Unusual Case of Alcoholic Liver Disease Associated with Secondary IgA Vasculitic Nephritis presenting as Rapidly Progressive Glomerulonephritis.

IgA nephropathy (IgAN) is a fairly common association with alcoholic liver disease. However, IgA vasculitis (IgAV) is quite an uncommon association with alcoholic liver cirrhosis and only a handful of cases have been reported in literature. Secondary IgAN usually presents in a docile manner, progressing slowly in about 5-25 years. It is usually responsive to steroid therapy, very rarely progressing to End-Stage Renal Disease. Here, we present a man in his late 50s, a known hypertensive and alcohol related liver-cirrhotic, who presented to our hospital with rash and rapidly progressive renal failure (RPRF). He was diagnosed with IgA nephritis with IgA vasculitis (IgAVN). His diagnosis was confirmed with skin and renal biopsy. He was started on renal replacement therapy for his renal failure and began oral steroid therapy. After administration of steroid therapy for 6 months, the patient recovered and was dialysis independent with stable renal parameters.

A rare case of dialysis associated reaction presenting with urticarial vasculitis and haemoglobinuria.

Dialysis associated reactions presenting with urticarial vasculitis is rarely reported in medical literature. We report a 61-year-old gentleman who developed sudden onset dyspnea with diffuse erythema within 20 min of haemodialysis. Patient was started on Azilsartan 3 days prior to this clinical event. Labs revealed features of hemolysis and urine was positive for hemoglobinuria. All dialysis related factors responsible for this reaction were ruled out. Due to non-resolution of skin rash, skin biopsy was attempted which revealed fibrinoid necrosis of occasional vessels with predominant lymphocytic infiltration suggestive of drug induced urticarial vasculitis. Complement levels were normal. He was managed with steroids, anti-histaminic, discontinuation of azilsartan and change of dialyzer membrane. This case highlights a rare dermatological presentation of Type A dialysis associated reaction involving azilsartan with differential diagnosis and treatment strategies.

Correlation of Beta Trace Protein Levels with Serum Creatinine-Based Estimated Glomerular Filtration Rate Equations in Chronic Kidney Disease.

Background. Estimated GFR (eGFR) is calculated using serum creatinine (SCr) based equations which have their own limitations. Novel biomarkers like beta trace protein (BTP) are studied for eGFR estimation. The aim of this study is to determine the serum levels of BTP in healthy controls and chronic kidney disease (CKD) cases and to find out the correlation of BTP levels with that of SCr and SCr-based eGFR formulas. Methods. The control group comprised of 20 healthy adults. The cases comprised of 20 patients each in CKD stages 3, 4, and 5, categorized based on eGFR calculated using MDRD formula. Baseline characteristics of the study population were recorded. BTP was measured by ELISA (Enzyme Linked Immunosorbent Assay) method and SCr by modified Jaffe's method. The statistical analyses were performed with the SPSS for Windows, version 16.0. Results. The median value of blood urea nitrogen (BUN) in the cases was 26.50 mg/dL (IQR 19.25-37) and for control it was 9.5 mg/dL (IQR 8-12). The median value of SCr in the cases was 2.75 mg/dL (IQR 1.725-4.45) and in the controls, it was 0.7mg/dL (IQR 0.6 -0.8). The median value of BTP in cases was 6389.25 ng/ml (IQR 5610.875-10713.75) and in controls, it was 1089.5 ng/ml (IQR 900.5-1309.75). Conclusion. Serum BTP levels correlated with SCr levels and renal function. We could establish the relationship between the two biomarkers, SCr and BTP, and derive a regression equation.