Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.

It is assumed that a persistent high level of parathyroid hormone (PTH) might have a relation with bone malignancy. However, there has been no report of osteosarcoma associated with pseudohypoparathyroidism type 1b (PHP1b), which is accompanied by high PTH. PHP1b is the result of resistance to PTH in certain end-organ tissues, especially the kidney; the response in bone is unaffected because it normally expresses stimulatory G protein equally from both parental alleles. A 21-year-old male, presenting with gum swelling at the right mandible, was referred to a dental clinic. A curative surgical resection by segmental mandibulectomy was performed and the pathologic findings of the mass were consistent with osteoblastic osteosarcoma. His laboratory results showed a low calcium level despite high PTH, and he did not have any features of Albright hereditary osteodystrophy; therefore, PHP1b was suspected. Multiplex ligation-dependent probe amplification and microsatellite marker analyses of chromosome 20 confirmed the diagnosis and identified paternal uniparental disomy of chromosome 20q (patUPD20). To the best of our knowledge, this is the first report of osteosarcoma in a patient with PHP1b due to patUPD20. © 2017 American Society for Bone and Mineral Research.

Presumptive pseudohypoaldosteronism secondary to chronic urinary tract obstruction from sloughed urinary bladder mucosa and urinary tract infection in a cat.

OBJECTIVE: To describe a case of presumptive secondary pseudohypoaldosteronism (PHA) in a cat with urinary tract infection and chronic urethral obstruction. The obstruction was believed to have resulted from sloughed urinary bladder mucosa secondary to pressure necrosis. CASE SUMMARY: A 5-year-old, 4 kg, castrated male Siamese cat presented for vomiting and stranguria. Medical history included a perineal urethrostomy for urethral obstruction. Physical examination revealed a large, painful, nonexpressible urinary bladder. Point-of-care testing demonstrated electrolyte derangements consistent with a postrenal azotemia and metabolic acidosis. Results of urine culture was positive for bacterial growth. Diagnostic imaging revealed presence of retroperitoneal fluid, marked urinary bladder wall thickening, bilateral hydroureter, mild bilateral pyelectasia, and small nephroliths. The patient was treated for a urinary tract obstruction and infection. In the 3 weeks following initial discharge, the patient was evaluated on multiple occasions for lethargy, intermittent vomiting, inappropriate urination, and progressive polyuria and polydipsia. Although the urinary bladder was easily expressed during repeat examinations, it was persistently distended and subjectively thickened upon palpation. Repeat ultrasound of the urinary tract showed evidence of sloughed tissue in the bladder lumen, likely secondary to chronic urethral obstruction and pressure necrosis. A cystotomy was performed to remove the necrotic tissue, and a revised perineal urethrostomy was done due to a partial urethral stricture. Bladder biopsies were obtained at this time. Postoperatively, the cat was reported by the owners to be urinating normally but continued to be polyuric and polydipsic in the week following discharge. One week after surgery, the cat presented in hypovolemic shock with laboratory findings consistent with a presumptive diagnosis of secondary PHA. NEW OR UNIQUE INFORMATION PROVIDED: PHA has not been reported previously in a cat. This case report suggests that aldosterone resistance should be considered in cats with consistent laboratory findings and a history of documented obstructive uropathy and urinary tract infection.

Pseudohypoaldosteronism associated with ureterocele and upper pole moiety obstruction.

A 2-month-old girl was diagnosed with a febrile urinary tract infection. Subsequent studies revealed a right renal duplication anomaly with a poorly functioning upper pole moiety subtended by an intravesical ureterocele. The patient was also found to have hyperkalemia, hyponatremia, and elevated serum aldosterone. After antibiotic therapy, the urinary tract infection resolved, although the electrolyte and hormonal abnormalities persisted. At 4 months of age, a right upper pole heminephrectomy was performed. The patient's electrolyte and hormonal levels normalized. This case represents an unusual case of pseudohypoaldosteronism presenting with urinary tract infection and obstructed upper pole moiety that resolved after surgical intervention.

Transient pseudohypoaldosteronism in obstructive renal disease.

The cases of two patients with transient pseudohypoaldosteronism due to an up to this point unrecognized obstructive renal disease are reported. Both girls presented with a severe salt-losing episode in early infancy mimicking congenital adrenal hyperplasia. Extensive endocrinologic work-up revealed markedly elevated plasma-aldosterone levels. Clinical and laboratory data were consistent with transient pseudohypoaldosteronism. Sonographic and radiological investigation showed in both children a vesicoureteral reflux of differing grades. After therapy of the electrolyte-imbalance and recovery, one of the children required surgical treatment of vesicoureteral reflux.