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.

Platelet indices as prognostic markers of ischemic stroke and their correlation with lipid profile.

OBJECTIVE: Stroke is the cause of one in eight deaths and adds a dreadful burden of disability for the patients. Ischemic stroke is caused by a loss of blood supply to brain due to sudden occlusion of the arterial system, caused by an emboli or thrombus. Our aim was to correlate platelet indices, total cholesterol ratio, and various comorbidities with stroke. METHODS: A cross-sectional study was performed from 2020-2022 with 132 stroke patients admitted to the SRM Medical College Hospital and Research Center, India. Detailed clinical examination was performed. Venous blood samples were drawn at the time of admission to estimate platelet count, mean platelet volume (MPV), platelet distribution width (PDW), and platelet crit (PCT). Overnight fasting serum samples were obtained for lipid profiling. RESULTS: Among the participants in our study, maximum belonged to the age group 50 to 59 years (34.1%) and majority were males (79.5%). In terms of comorbidities, 85.6% of the participants had diabetes, 42.4% had hypertension and 22% had dyslipaedemia. All platelet and lipid parameters were found to be similar between patients with and without comorbidities. While all platelet indices increased with the increase in severity of stroke, we found that PDW is most reliable in predicting stroke with an area under the receiver operator curve of 0.942, with a sensitivity and specificity of 92.1% at cut-off value 14. All platelet parameters also significantly increased in patients with severe lipid dysfuction, establishing a correlation between lipid profile, platelet indices and stroke. CONCULSION: We found a significant relationship between all platelet parameters and stroke. Thus, we believe that patients with risk factors for atherosclerosis should have their platelet indices assessed periodically before the development of cerebrovascular events. Furthermore, dyslipidemia if properly treated, is a modifiable risk factor for stroke, which can decrease morbidity and mortality leading to a healthier society.

Relapsing Polychondritis: A Rare Case Report.

Relapsing polychondritis is an uncommon disorder of unknown cause characterized by inflammation of cartilage, predominantly affecting the ear, nose, and laryngotracheobronchial tree. The case under discussion is a 50-year-old female with a classical presentation of relapsing polychondritis with saddle nose deformity, bilateral auriculitis, and laryngotracheobronchomalacia with joint involvement.