Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant hereditary tumor syndrome characterized by synchronous or metachronous occurrence of primary hyperparathyroidism (PHPT), ossifying fibroma of the maxilla and/or mandible, renal tumor and uterine tumors. Early diagnosis of this syndrome is essential because it is associated with increased risk of parathyroid cancer. A 30-year-old man with urolithiasis had severe hypercalcemia (15.0 mg/dL after correction) induced by inappropriate parathyroid hormone (PTH) secretion (intact PTH 1390 pg/mL), indicating severe PHPT. An underlying parathyroid tumor was surgically removed and was histologically confirmed to be an adenoma. However, PHPT due to another parathyroid tumor reoccurred two years after the surgery. Although no HPT-JT-associated manifestations other than PHPT were detected, HPT-JT was strongly suspected based on the exclusion of multiple endocrine neoplasia (MEN) and the young age of disease occurrence. Genetic analysis revealed a novel nonsense mutation (p.Arg91X; c.271C>T) in exon 3 of the causative gene, CDC73, which encodes the tumor suppressor protein parafibromin. The residual parathyroid glands were all removed without autotransplantation of parathyroid gland taking into consideration prospective parathyroid carcinogenesis. The resected parathyroid tumor was also an adenoma. The present case highlights that HPT-JT should be considered and CDC73 mutation analysis should be performed, especially in cases of early-onset PHPT, recurrent PHPT, PHPT with polyglandular parathyroid involvement, and PHPT presenting with severe hypercalcemia even if there is no positive family history.
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PMID:Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation. 2595 15

A renal epithelial tumor with a papillary or tubulopapillary pattern and a low nuclear grade is defined as a renal adenoma if its diameter is 5 mm or less. Two important issues related to the renal adenoma are the lack of exact criteria for the histopathological differentiation from a papillary renal cell carcinoma and the lack of consensus as to whether it is a precancerous lesion. Renal adenomatosis is very rarely seen entity entity characterized by multiple and usually bilateral adenomas. Innumerable adenomas, adenomatous transformations within a single tubule and adenomas measuring 7 mm or less, were detected in a 47-year-old man who underwent simple nephrectomy due to nonfunctional hydronephrosis secondary to urolithiasis. In this paper, our diagnostic approach to this fairly rare entity is discussed along with a brief literature review.
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PMID:Incidentally detected renal adenomatosis in a patient with urolithiasis: a case report. 2632 80

Primary hyperparathyroidism is a medical condition caused by overactive of parathyroid gland. It is most commonly caused by solitary adenoma of the parathyroid gland. Other causes of this condition are hyperplasia, multiple adenomas, and parathyroid cancer. Primary hyperparathyroidism has some metabolic consequences in the calcium metabolism. Hypercalcemia in patient with primary hyperparathyroidism will resulted to the most important comorbidity that is chronic deposition of calcium in the kidney forming nephrolithiasis or other urolithiasis. It is not uncommon, patient with parathyroid adenoma come to health care professionals with the chief complain of recurrence nephrolithiasis.
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PMID:Recurrent Bilateral Staghorn Stones as a Manifestation of Primary Hyperparathyroidism due to Parathyroid Adenoma. 2693 5

We report here a rare case of primary hyperparathyroidism that was associated with an ectopic parathyroid adenoma located in the mediastinum. A 66-year-old woman suffering from primary hyperparathyroidism had been followed-up on an outpatient basis for over 10 years. She suffered from persistent urolithiasis and osteopenia due to hypercalcemia. After technetium-99-sestamibi (99mTc-MIBI) scintigraphy revealed an ectopic adenoma in the superior mediastinum, thoracoscopic resection of the tumor was performed. Subsequently, her serum parathyroid hormone (PTH) level decreased dramatically and her serum calcium concentration was restored to normal. Two years following surgery, her serum PTH and Ca levels remain stable.
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PMID:A rare case of mediastinal functioning parathyroid adenoma removed successfully with thoracoscopy. 2845 75

Primary hyperparathyroidism is one of the most common endocrine diseases, however, it is rare in children. In most cases, it is caused by adenoma of these organs. Its most common complications include urolithiasis, nephrocalcinosis and osteoporosis.
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PMID:[Recurrent urolithiasis as a symptom of primary hyperparathyroidism in a 16-year-old boy]. 2977 51

Paediatric hypercalcaemia is a rare condition which can be easily overlooked or misdiagnosed. We report two paediatric patients who presented to the Department of Paediatrics, Pardubice Hospital, Pardubice, Czech Republic, in 2009 and 2010, respectively. Each patient was diagnosed with hypercalcaemia due to a different cause. The first case involved a seven-month-old infant who presented with failure to thrive, vomiting and psychomotor retardation. Fluorescent in situ hybridisation revealed Williams-Beuren syndrome. The second patient was a 16-year-old girl with abdominal pain and renal colic due to hypercalcaemia-induced urolithiasis. High parathyroid hormone serum levels suggested primary hyperparathyroidism. An adenoma of the left upper parathyroid gland was diagnosed via technetium-99m-labelled methoxyisobutyl isonitrile single photon emission computed tomography and removed surgically. Hypercalcaemia should be considered in the differential diagnosis of various disease states, particularly among infants who fail to thrive or children with abdominal pain.
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PMID:Two Different Causes of Paediatric Hypercalcaemia. 3060 85

A 77-year-old man with a history of hypertension, prostate hyperplasia, and urolithiasis was admitted for acute kidney injury caused by hypercalcemia. Neck ultrasonography showed a large cyst adjacent to the right lower thyroid lobe. Although a 99mtechnetium sestamibi scan was negative, an extremely high intracystic intact parathyroid hormone level suggested that the cyst had a parathyroid origin and that a functional parathyroid cyst was present. Immunohistochemical staining for the calcium-sensing receptor (CaSR) after right lower parathyroidectomy revealed CaSR-positive cells lining the cyst, indicating that the functional parathyroid cyst had originated from the hemorrhagic degeneration of a parathyroid adenoma.
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PMID:A Functional Parathyroid Cyst from the Hemorrhagic Degeneration of a Parathyroid Adenoma. 3158 82

Nephrogenic adenoma is a rare, benign lesion that can be encountered anywhere along the urinary tract. It is associated with genitourinary trauma, chronic inflammation, genitourinary surgery, renal transplant, urolithiasis, and radiation. In children, these lesions are almost exclusively found in the bladder. However, we report an unusual case of a 15-year-old boy with no prior urologic history who presented with an obstructing right ureteral nephrogenic adenoma that required an ileal ureter interposition and right ureterectomy.
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PMID:A Case Report of an Obstructing Ureteral Nephrogenic Adenoma in a Child Managed With Open Ileal Ureter. 3243 56

Parathyroid hyperactivity is the state of over-production and PTH secretion [1]. The most common cause of primary hyperparathyroidism is parathyriod adenoma - about 80% of cases, the remaining are parathyroid hyperplasia around 15%cases [2] [3], and in 1-5% of cases, cancer [2] [3] [4] [5]. The disease is diagnosed inabout 40 people in 100,000 [5] [6] [3] [7]. The most common cause of adenoma is the mutation in gene MEN 1. Less than 5% of cases are chronichyperparathyroidism, which is a component of the MEN 1 MEN 2a endocrine adenocarcinoma syndrome [1]. Excess PTH in the body leads to increased mobilization of calcium from the bones, and henceincreased osteolysis, what also increases the absorption of calcium from thedigestive system, as well as an increased amount of phosphate excretion in the urine. Clinical picture of the disease is multiform and often runs in a latent form. Most often the diseaseoccurs in the form of osteoporosis, chronic recurrent kidney stones, and is also commonpyelonephritis on the basis of urolithiasis. The disease may be accompanied by: dysphagia, abdominal pain, metallic taste in the mouth, persistent constipation. In addition, from the systemnervous: dizziness and headaches, disturbances of consciousness. Arrhythmia the form of additional contractions and paroxysmal tachycardia. Osteolysis, osteoporosis and pathological fractures [1]. The purpose of this article is to bring closer to the reader case of 33 years old woman with primary hyperparathyroidism on the adenoma.
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PMID:Primary hyperparathyroidism on the example of a 33-year-old female patient with parathyroid adenoma. 3275 98

Cushing syndrome (CS) occurs rarely in children. The clinical presentation of CS varies according to the extent and duration of glucocorticoid excess, and urolithiasis is one of the common complications of CS. We report the first case of a patient with CS associated with acute kidney injury (AKI) due to urolithiasis. A 6-year-old boy came to the emergency room with seizure. On physical examination, he had clinical features of CS and high blood pressure. Brain computerized tomography (CT) suggested posterior reversible encephalopathy syndrome due to hypertension. On the evaluation of hypertension, the laboratory tests suggested adrenocortical tumor, but the abdominal CT suggested pheochromocytoma. During further evaluation, his condition deteriorated with AKI due to bilateral ureteral stones, therefore he underwent continuous renal replacement therapy in the intensive care unit. After controlling hypercortisolism with etomidate and performing ureteral stent indwelling, resection of an adrenal mass was performed, and the mass was histologically confirmed as an adrenocortical adenoma. We review the clinical manifestations and diagnosis, and management of CS associated with urolithiasis and AKI. Early recognition and careful monitoring of urolithiasis in CS are important to avoid severe complications of urolithiasis.
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PMID:Cushing syndrome with acute kidney injury due to ureteral stones in a 6-year-old boy. 3287 46


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