Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

GENETIC DISEASE MODELS: A certain proportion of hypertension cases are due to renal disease. Recent advances in genetics has improved our knowledge of the pathophysiological mechanisms involved in certain rare diseases including apparent overproduction of mineralocorticoids, Liddle syndrome and Gitelman syndrome, and to hypothesize on the mechanism of primary hypertension. EFFECT ON PROGNOSIS: Onset of renal disease in hypertensive patients, whether expressed by proteinuria or the early stages of renal failure, worsens cardiovascular prognosis. FREQUENCY OF RENAL DISEASE: Renal disease is relatively rare in hypertensive patients, but as the general hypertensive population becomes older, there is a considerable rise in the prevalence of hypertensive renal disease as the underlying cause leading to dialysis. The risk of progressing to renal failure appears to be related to the level of the blood pressure, especially systolic pressure, at disease onset. Hypertension black subjects have a higher risk of developing chronic renal failure. THERAPEUTIC BENEFIT: Several studies have shown that lowering blood pressure with antihypertensive drugs lowers the risk progressing with primary hypertension.
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PMID:[Renal involvement in essential arterial hypertension]. 920 91

Recent studies of hereditary renal tubular disorders have facilitated the identification and roles of chloride channels and cotransporters in the regulation of the most abundant anion, Cl-, in the ECF. Thus, mutations that result in a loss of function of the voltage-gated chloride channel, CLC-5, are associated with Dent's disease, which is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. Mutations of another voltage-gated chloride channel, CLC-Kb, are associated with a form of Bartter's syndrome, whereas other forms of Bartter's syndrome are caused by mutations in the bumetanide-sensitive sodium-potassium-chloride cotransporter (NKCC2) and the potassium channel, ROMK. Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome. These studies have helped to elucidate some of the renal tubular mechanisms regulating mineral homeostasis and the role of chloride channels.
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PMID:Chloride channels in renal disease. 1056 51

There have been rare reports of glomerulopathies developing in patients with Bartter syndrome (BS) and its milder variant, Gitelman syndrome (GS). We present the first case of C1q nephropathy (C1qN) in an African American child with GS. This child was diagnosed with GS at 9 years of age and subsequently developed nephrotic range proteinuria 3 years later. Renal biopsy revealed mesangial hypercellularity and focal segmental glomerulosclerosis (FSGS). The segmental lesions were generally located at the vascular pole. Dominant C1q (2+) staining along with IgG (1-2+) was demonstrated in the mesangium, which correlated with scattered electron dense mesangial deposits demonstrated by electron microscopy. Treatment with an angiotensin-converting enzyme inhibitor led to an improvement in proteinuria to near-normal values (urine protein/creatinine ratio down to 0.5), but the creatinine clearance declined to approximately 58 ml/min/1.73 m(2). This case highlights the possible association between the milder hypokalemic tubulopathy, GS, and glomerular disease, including C1qN. Prompt evaluation of proteinuria with renal biopsy in these patients is recommended to detect significant glomerular pathology. Further research is needed to define risk factors for this complication.
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PMID:C1q nephropathy in association with Gitelman syndrome: a case report. 1704 81

Nephrotic syndrome, though common in children, association of it with Gitelman's syndrome (GS) is a rare occurrence. Very few cases have been reported in the medical literature so far. Here we report a case of nephrotic syndrome with frequent relapses and remissions on intermittent steroid and diuretic therapy. Patient was restarted on steroids and frusemide. Puffiness of face, bipedal edema and oliguria improved but patient developed tingling numbness in both limbs, perioral numbness and carpopedal spasm. On investigation she was found to have proteinuria, metabolic alkalosis, hypokalemia, hypocalcemia, hypomagnesemia and hyperreninemia with normal blood pressure.
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PMID:A case of nephrotic syndrome with Gitelman's syndrome. 2111 55

The Na-Cl cotransporter (NCC) in the distal convoluted tubules in kidney is known to be excreted in urine. However, its clinical significance has not been established because of the lack of quantitative data on urinary NCC. We developed highly sensitive enzyme-linked immunosorbent assays (ELISAs) for urinary total NCC (tNCC) and its active form, phosphorylated NCC (pNCC). We first measured the excretion of tNCC and pT55-NCC in urinary exosomes in pseudohypoaldosteronism type II (PHAII) patients since PHAII is caused by NCC activation. Highly increased excretion of tNCC and pNCC was observed in PHAII patients. In contrast, the levels of tNCC and pNCC in the urine of patients with Gitelman's syndrome were not detectable or very low, indicating that both assays could specifically detect the changes in urinary NCC excretion caused by the changes of NCC activity in the kidney. Then, to test whether these assays could be feasible for a more general patient population, we measured tNCC and pNCC in the urine of outpatients with different clinical backgrounds. Although urinary protein levels >30 mg/dl interfered with our ELISA, we could measure urinary pNCC in all patients without proteinuria. Thus we established highly sensitive and quantitative assays for urinary NCC, which could be valuable tools for estimating NCC activity in vivo.
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PMID:Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurement. 2406 4

Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases include autosomal dominant and recessive polycystic kidney disease (ADPKD, ARPKD, respectively). Neonates with enlarged, cystic kidneys should be evaluated for PKD. Patients with ADPKD have cysts and renal enlargement. Most patients present with hypertension, hematuria or flank pain; the most common extrarenal manifestation is polycystic liver disease. Oligohydramnios, bilaterally enlarged kidneys and decreased urine are featured in utero in ARPKD. Medullary sponge kidney is uncommon and features nephrocalcinosis, recurrent calcium stones and a history of polyuria/nocturia and/or urinary tract infections. Alport syndrome (AS) is an inherited disease of the glomerular basement membrane that is usually inherited as an X-linked dominant trait. Most patients with AS present in the first two decades of life with persistent microscopic or gross hematuria. Later, proteinuria is seen and its presence portends disease progression. Other findings may include sensorineural hearing loss and ocular abnormalities. There are various inherited tubulopathies, including Bartter syndrome, a group of renal tubular disorders that consist of two phenotypes with four genotypes. Patients usually present early in life with salt wasting, hypokalemia and metabolic alkalosis. Other features, depending on genotype, may include polyhydramnios and premature birth. Gitelman syndrome is also a salt-losing tubulopathy characterized by hypokalemic alkalosis. The majority of patients with Gitelman syndrome present during adolescence or early adulthood.
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PMID:Inherited renal diseases. 2508 62

We report on a 27-year-old patient presenting with chronic hypokalaemia, inappropriate kaliuresis, hypomagnesaemia and alkalosis, associated with moderate proteinuria. Genetic analysis evidenced a homozygous mutation (p.Arg399Cys) in the SLC12A3 gene coding for the sodium-chloride cotransporter (NCC), confirming the diagnosis of Gitelman syndrome. Further genetic testing did not show any mutation in NPHS2. A renal biopsy was performed in view of the unusual association with proteinuria. Light microscopy showed hypertrophy of the juxtaglomerular apparatus and discrete mesangial thickening. In addition to possible focal segmental glomerular sclerosis lesions, electron microscopy showed extensive segments of variably thickened glomerular basement membrane (GBM), contrasting with segments of regular GBM of low range thickness, and effacement of podocyte foot processes. Of interest, alterations of the GBM were also observed in a Slc12a3 knock-out mouse model for Gitelman syndrome. These data suggest that the association between Gitelman syndrome and secondary changes of the GBM is probably not coincidental. Possible mechanisms include angiotensin II- or renin-induced podocyte lesions, as well as chronic hypokalaemia.
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PMID:Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction? 2516 77

Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of atypical eclampsia in a 31-year-old who was diagnosed with Gitelman syndrome incidentally during an antenatal screening test. The patient did well during pregnancy despite significant hypokalemia. At 33 weeks' gestation, the patient exhibited eclampsia, hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, and renal insufficiency without significant hypertension or proteinuria. We explain this unusual clinical course through a review of the relevant literature.
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PMID:HELLP syndrome in a pregnant patient with Gitelman syndrome. 2839 2