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Classic renal tubular acidosis is characterized by a primary defect in establishment of a large hydrogen ion gradient across the distal renal tubule. Thus the development of hyperchlorenic metabolic acidosis follows. In addition, hypokalemia results from renal potassium wasting secondary hyperaldosteronism from sodium wasting and contraction of the extracellular fluid. The presenting signs and symptoms are growth retardation, fatigue, periodic paralysis, polyuria, polydipsia, vomiting and constipation as well as nephrocalcinosis and nephrolithiasis. It is suggested that effective treatment with alkali therapy requires markedly higher doses than formerly recommended, and may related to a higher rate of endogenous acid production from (1) intermediary metabolism of sulfur amino acids and organic acids, (2) impaired tubular reabsorption of bicarbonate and (3) hydrogen ion release from hydroxyapatite formation. It is also suggested that acidosis may interfere with vitamin D metabolism and thus play an important role in the pathoetiology of the growth failure in children with this disorder.
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PMID:Acid-base, calcium, potassium and aldosterone metabolism in renal tubular acidosis. 3 60

The management of the patient presenting to the Emergency Department with nephrolithiasis or renal colic should include evaluation of the patient for concurrent diseases, risk factors for stone formation, and possible etiologies for stones. Suspicion of ureterolithiasis is based on a cogent history and physical examination and reinforced by a finding of hematuria. Diagnosis should be based upon a promptly performed intravenous pyelogram, unless the patient is truly allergic to contrast media or has substantial risk of a contrast-induced renal failure. A solitary flat plate of the abdomen adds no useful information and is an unnecessary expense to the patient. Essential laboratory data include a urinalysis, CBC, and electrolyte, BUN, creatinine, and serum calcium levels. A urine culture should be obtained in all patients because urinalysis alone may not be sufficient to exlude a urinary tract infection. Initial treatment of the patient with an uncomplicated renal colic should include hydration, relief of pain, and reassurance. Evaluation by a consultant may be done as an outpatient on a nonemergent basis. If the colic has not resolved after 72 hours, hospitalization generally is recommended. If the patient has vomiting, dehydration, a complete obstruction, or a solitary kidney, hospitalization in indicated and urgent consultation recommended. If the patient has fever or other signs of infection, emergent consultation and immediate hospitalization are essential. Retained obstructing stones are generally managed by urologic consultants. It is in the care of the patient with the retained stone that greatest advances have been made in the past 10 years. Patients should be counseled that the retained stone no longer calls for extended hospitalization and convalescence.
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PMID:Nephrolithiasis. 329 30

Parathyroid carcinoma is a rare cause of hyperparathyroidism (rate of occurrence of 0.5% of all parathyroid neoplasms). In this report we describe three cases of parathyroid carcinoma seen in our Institution and we analyse the clinical, diagnostic, therapeutic and pathological findings of this disease. The three patients were 14, 22 and 45 year old respectively. Familial history was negative for endocrine diseases. The laboratory and instrumental findings of thyroid and adrenal glands were negative. Predominant symptoms were in all cases weakness, lethargy, bone and muscular pain, nausea, vomiting. The two young patients presented fractures of the inferior limb and of the forearm respectively, five years and one year before the diagnosis. X-ray examination and MNR easily demonstrated the "brown tumors". In two cases a symptomatic nephrolithiasis was present. The 14 year old child presented polyuria and polydipsia. In all cases a mass was palpable in the neck (two in the right side and one in the left one). The elevated serum calcium concentration (15, 18, and 20.2 mg/dl respectively) and the elevated serum PTH (480, 651, and 680 pg/ml respectively) allowed the diagnosis of hyperparathyroidism. Ultrasound scan and thallium-technetium scanning identified in all cases a mass adjacent the thyroid. A radical resection of the malignant parathyroid gland and the ipsilateral thyroid lobe was performed in two cases, while only a resection of the involved parathyroid gland in one case. The diagnosis of parathyroid cancer was established using pathologic criteria.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Carcinoma of the parathyroids. Surgical experience in 3 cases]. 774 59

Although gout and hyperuricaemia are usually thought of as conditions of indulgent male middle age, in addition to the well-known uricosuria of the newborn, there is much of importance for the paediatric nephrologist in this field. Children and infants may present chronically with stones or acutely with renal failure from crystal nephropathy, as a result of inherited deficiencies of the purine salvage enzymes hypoxanthine-guanine phosphoribosyltransferase (HPRT) and adenine phosphoribosyltransferase (APRT) or of the catabolic enzyme xanthine dehydrogenase (XDH). Genetic purine overproduction in phosphoribosylpyrophosphate synthetase superactivity, or secondary to glycogen storage disease, can also present in infancy with renal complications. Children with APRT deficiency may be difficult to distinguish from those with HPRT deficiency because the insoluble product excreted, 2,8-dihydroxyadenine (2,8-DHA), is chemically very similar to uric acid. Moreover, because of the high uric acid clearance prior to puberty, hyperuricosuria rather than hyperuricaemia may provide the only clue to purine overproduction in childhood. Hyperuricaemic renal failure may be seen also in treated childhood leukaemia and lymphoma, and iatrogenic xanthine nephropathy is a potential complication of allopurinol therapy in these conditions. The latter is also an under-recognised complication of treatment in the Lesch-Nyhan syndrome or partial HPRT deficiency. The possibility of renal complications in these three situations is enhanced by infection, the use of uricosuric antibiotics and dehydration consequent upon fever, vomiting or diarrhoea. Disorders of urate transport in the renal tubule may also present in childhood. A kindred with X-linked hereditary nephrolithiasis, renal urate wasting and renal failure has been identified, but in general, the various rare types of net tubular wasting of urate into the urine are recessive and relatively benign, being found incidentally or presenting as colic from crystalluria. However, the opposite condition of a dominantly inherited increase in net urate reabsorption is far from benign, presenting as familial renal failure, with hyperuricaemia either preceding renal dysfunction or disproportionate to it. Paediatricians need to be aware of the lower plasma urate concentrations in children compared with adults when assessing plasma urate concentrations in childhood and infancy, so that early hyperuricosuria is not missed. This is of importance because most of the conditions mentioned above can be treated successfully using carefully controlled doses of allopurinol or means to render urate more soluble in the urine. Xanthine and 2,8-DHA are extremely insoluble at any pH. Whilst 2,8-DHA formation can also be controlled by allopurinol, alkali is contraindicated. A high fluid, low purine intake is the only possible therapy for XDH deficiency.
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PMID:Gout, uric acid and purine metabolism in paediatric nephrology. 843 71

Acute renal failure (ARF) is a rare presentation of IgA nephropathy (IgAN). It can be associated with the episodes of macroscopic haematuria, being then usually reversible, or it develops in the course of progressive glomerulopathy with extracapillary proliferation. In the first case ARF is attributed to tubular obstruction by red blood cell casts. We present the case of a 16-year-old boy with non-oliguric ARF in the course of IgAN. He was admitted to the urology unit with 4-day history of gross haematuria, severe loin pain, fever and vomiting. A year before admission he had a short episode of macrohaematuria without any other accompanying symptoms. His family history was not relevant. As the patient was suspected to have acute renal colic in the course of nephrolithiasis, intravenous urography was performed. Since no urinary tract visualisation was obtained, laboratory investigation was carried out revealing marked renal dysfunction with serum creatinine level of 743.3 mumol/l and serum urea of 49.3 mmol/l. The patient was transferred to our department, where conservative treatment was administered (dialysis was not instituted). A rapid improvement in renal function was observed; it returned to normal within 2 weeks. The biopsy findings were consistent with IgAN.
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PMID:[Acute renal failure in the course of IgA nephropathy in a 16-year-old boy]. 1286 97

An eight-year-old, entire female Pekingese cross, weighing 3.8 kg, had been inappetent with fever, depression, abdominal pain, vomiting and diarrhoea for seven days. The radiographic and ultrasonographic findings were consistent with glomerulonephritis, nephrolithiasis in both kidneys, bladder calculi and an accumulation of fluid in the left perinephric space. The clinical signs, together with the results of the diagnostic imaging, suggested that this fluid could be pus. A definitive diagnosis of a subcapsular abscess in the left kidney was established when this kidney was removed surgically. A histopathological examination of the kidney revealed a diffuse suppurative interstitial nephritis, membranous glomerulonephritis and an abscess invading the perinephric adipose tissue from the renal cortex. Twelve months after surgery the dog remains clinically stable, but owing to the disease of its remaining kidney its long-term prognosis is poor.
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PMID:Left perinephric abscess associated with nephrolithiasis and bladder calculi in a bitch. 1514 2

Celiac artery aneurysms (CAA) are uncommon. Most are asymptomatic, but up to 20 per cent will present as surgical emergencies. We present a case of an asymptomatic CAA discovered in a 56-year-old male during evaluation for nephrolithiasis. Only rough estimates of the prevalence of CAA are available, ranging between 0.005 per cent and 0.05 per cent. There appears to be a slight male predominance, and atherosclerotic degeneration is the most common cause. Although most patients are asymptomatic, some will present with vague abdominal pain, nausea, vomiting, or symptoms of mesenteric ischemia. Rupture is a devastating presentation, with reported mortality rates from 35 per cent to 80 per cent. Repair is performed by ligation or reconstruction. Ligation should be considered in an urgent setting, with reconstruction preferred for elective repair. Morbidity and mortality from elective repair should not exceed 5 per cent. Repair of CAA should be undertaken unless major comorbid factors are prohibitive.
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PMID:Celiac artery aneurysms: a case report and review of the literature. 1691 21

Renal angiomyolipoma is a distinctive benign neoplasm that occurs either sporadically or in patients with tuberous sclerosis complex. A 45-year-old woman was admitted with history offlank pain and vomiting. There were no signs suggestive of tuberous sclerosis either in the patient or her family. At operation, she had a left renal mass with nephrolithiasis and hydronephrosis. Histopathology revealed epithelioid angiomyolipoma of the left kidney with chronic pyelonephritis. Immunohistochemistry confirmed the diagnosis of angiomyolipoma. This case is presented to highlight the epithelioid variant of angiomyolipoma which may behave in an aggressive manner.
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PMID:Epithelioid angiomyolipoma of the kidney: a case report. 1788 64

Ovarian vein thrombosis (OVT) is a rare cause of abdominal pain that may mimic a surgical abdomen. The differential diagnosis of OVT includes acute appendicitis, endometritis, pelvic inflammatory disease, pyelonephritis, nephrolithiasis, tubo-ovarian abscess, and ovarian torsion. The complications of OVT, including sepsis and pulmonary embolism, are significant. Diagnosis relies on a careful examination of the radiographic findings. This diagnosis should be considered not only in postpartum patients but also in women with pelvic inflammatory disease, recent abdominal surgery, malignancy, or known hypercoagulable state. In this report we present a case of OVT in a 29-year-old woman presenting with 3 days of sharp left-sided abdominal pain, nausea, and vomiting after bilateral salpingectomy. We then discuss the epidemiology, pathophysiology, and clinical management of OVT.
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PMID:Ovarian vein thrombosis: a rare cause of abdominal pain outside the peripartum period. 1819 26

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder caused by a defect in glyoxylate metabolism attributable to low or absent activity of the liver-specific peroxisomal enzyme alanine/glyoxylate aminotransferase. This defect leads to enhanced conversion of glyoxylate to poorly soluble oxalate, which is then excreted into the urine. This process may lead to deposition of calcium oxalate crystals in many tissues as well as in the kidneys, resulting in nephrolithiasis, nephrocalcinosis, and/or renal failure. We present a 39-year-old patient with end-stage renal failure due to PH1, who was admitted with symptoms of feeling bloated, vomiting, diarrhea, and abdominal pain related to encapsulating peritoneal sclerosis (EPS). He had been treated with peritoneal dialysis for a total period of 5 years. EPS is a rare condition characterized by fibrosis and adhesions of the peritoneum to loops of the small intestine and has been described secondary to treatment with peritoneal dialysis. It also occurs in a variety of other clinical conditions such as autoimmune diseases and peritoneal and intra-abdominal malignancies. The calcium oxalate crystals found in the peritoneal fascia of this particular patient may suggest a causative relationship between crystal deposits and evolution to fibrosis and sclerosis of the peritoneum. The degree of impact of the peritoneal dialysis treatment itself on the development of EPS, however, is uncertain.
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PMID:Encapsulating peritoneal sclerosis in a patient with primary hyperoxaluria type 1: a case report. 2005 90


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