ABSTRACT
Solitary thyroid nodule should raise a suspicion of malignancy, which is very common in middle-aged females. Papillary carcinoma thyroid is the most common thyroid malignancy. Warthin-like papillary carcinoma is one of its rare variants. It has a frequent association with Hashimoto's thyroiditis. Here, we report a case of 43-year-old female who presented with swelling in the anterior aspect of neck for 1 month. Fine-needle aspiration cytology features were suggestive of papillary carcinoma thyroid and biopsy confirmed the diagnosis of Warthin-like papillary carcinoma thyroid. This variant is of great clinical and prognostic significance as it carries an excellent prognosis.
Subject(s)
Carcinoma, Papillary , Thyroid Neoplasms , Middle Aged , Female , Humans , Adult , Carcinoma, Papillary/pathology , Thyroid Cancer, Papillary/diagnosis , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/surgery , Thyroid Neoplasms/complications , Biopsy, Fine-NeedleABSTRACT
Recent advances in genomics have uncovered the molecular mechanisms involved in the broad spectrum of variation associated with steroid-resistant nephrotic syndrome. Over 50 monogenic causes of steroid-resistant nephrotic syndrome have been discovered; however, these genes are implicated in only a small proportion of cases. Using a combination of whole-exome sequencing and genome-wide linkage studies, a missense mutation in anillin (ANLN) has been identified as a cause of focal segmental glomerulosclerosis, a pattern of glomerular injury associated with steroid-resistant nephrotic syndrome. We report a case of 2-year-6-month-old male child, who presented with severe edema and oliguria for 6 weeks. He was found to be an early steroid non-responder, hence renal biopsy and genetic testing were ordered. These findings were in favour of focal segmental glomerulosclerosis, a common cause of childhood steroid-resistant nephrotic syndrome. It is important to identify the causative agent to avoid unnecessary immunosuppressive therapy and its associated risks.
