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Topic: Distal primary acidosis, familial

Related Topics

Renal tubular acidosis, distal, type 4

distal tissue

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Distal myopathy

Renal tubular acidosis, distal, type 3

Chromosome 15, distal trisomy 15q

Onychonychia hypoplastic distal phalanges

Distal myopathy with vocal cord weakness

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	Distal Primary Acidosis, Familial
		Novel AE1 Mutations in Recessive Distal Renal Tubular Acidosis....
		Primary distal renal tubular acidosis (DRTA) is characterized by metabolic acidosis of varying severity...
		Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic...
	www.medicality.org.uk /diseases/distal-primary-acidosis,-familial.php (240 words)

	eMedicine - Hyperchloremic Acidosis : Article by Mahendra Agraharkar, MD, FACP
		Primary metabolic acidoses can occur as a result of a marked increase in endogenous acid production (eg, lactic or keto acids), loss of bicarbonate stores through diarrhea or renal tubular wasting, or progressive accumulation of endogenous acids when excretion is impaired by renal insufficiency.
		A normal AG acidosis is characterized by a lowered bicarbonate concentration, which (in the presence of a normal sodium concentration) is counterbalanced by an equivalent increase in plasma chloride concentration.
		A metabolic acidosis occurring secondary to decreased renal acid secretion in the absence of marked decreases in the glomerular filtration rate and characterized by a normal AG is due to diseases that are usually grouped under the term dRTA.
	www.emedicine.com /med/topic1071.htm (6582 words)

	eMedicine - Hyperaldosteronism, Primary : Article by Gabriel I Uwaifo
		A family history of HTN (particularly with a young age of onset), HTN in children, low-renin HTN, and presumed IAH are the typical situations in which this diagnosis should be considered.
		Of importance to note is the fact that primary aldosteronism in and of itself is typically not associated with edema despite the volume expanded state associated with it.
		Individuals with primary hyperaldosteronism (PH) may present with hypokalemic metabolic alkalosis; however, as many as 38% of patients with PH may be normokalemic at presentation.
	www.emedicine.com /med/topic3193.htm (7657 words)

	The purpose of this case report is to emphasise that distal renal tubular acidosis ... (Site not responding. Last check: 2007-10-30)
		The purpose of this case report is to emphasise that distal renal tubular acidosis may be the cause of acute flaccid quadriplegia.
		Distal RTA is a clinical syndrome consisting of hypokalaemia, hyperchloraemic metabolic acidosis, inability to lower urinary pH below 5.5, nephrocalcinosis, nephrolithiasis, and additional feature includes osteomalacia or rickets.
		Somchai eiam-ong, Neil A. Kurtzman: Renal tubular acidosis.
	www.indegene.com /Nep/ClinRound/indNepCase9.html (1141 words)

	JN 2002; Vol.15 (suppl. 5): S142-S150 (Site not responding. Last check: 2007-10-30)
		In CRF (uremic acidosis), as in distal RTA, urinary excretion of NH and titratable acid is decreased; but, in contrast to distal RTA, urine pH is usually low, and when the amounts of excreted phosphate and NH are adjusted for the reduced GFR, both are normal or even increased (15).
		Urinary acidification and the diagnosis of distal RTA
		Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
	www.sin-italy.org /jnonline/Vol15s5/Unwin/unw.html (5074 words)

	Familial Distal Renal Tubular Acidosis Is Associated with Mutations in the Red Cell Anion Exchanger (Band 3, AE1) Gene ...
		Familial Distal Renal Tubular Acidosis Is Associated with Mutations in the Red Cell Anion Exchanger (Band 3, AE1) Gene -- Bruce et al.
		Familial Distal Renal Tubular Acidosis Is Associated with Mutations in the Red Cell Anion Exchanger (Band 3, AE1) Gene
		Families A, B, and D were large enough for linkage analysis.
	www.jci.org /cgi/content/full/100/7/1693 (5434 words)

	Magnesium Transport in the Renal Distal Convoluted Tubule -- Dai et al. 81 (1): 51 -- Physiological Reviews
		are absorbed in the distal tubule (19, 92, 93, 248, 252,
		Distal magnesium absorption is load dependent in that an increase in magnesium delivery to the DCT is associated with an increase
		tubule, loop of Henle, and distal tubule (83, 113).
	physrev.physiology.org /cgi/content/full/81/1/51 (7807 words)

	Novel AE1 Mutations in Recessive Distal Renal Tubular Acidosis . Loss-of-Function Is Rescued by Glycophorin A -- ...
		and acidosis evident in a bovine cohort with a homozygous loss-of-function
		Nilwarangkur (1996) Prevalence of endemic distal renal tubular acidosis and renal stone in the northeast of Thailand.
		Wrong, and M.J. Tanner (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.
	www.jci.org /cgi/content/full/102/12/2173 (4545 words)

	Renal Tubular Acidosis
		Metabolic acidosis results, but anions such as sulfate and phosphorus are excreted normally (unlike in ESRD) and are unavailable to balance the fall in serum HCO3 that accompanies an increased serum H+.
		In Type I RTA the primary defect is impaired distal tubule acidification of the urine.
		HCO3 supplementation in the form of sodium or potassium citrate is the treatment of choice (1-2 meq/kg/d in 4-5 divided doses) One randomized cross-over trial of 6 (yes 6) patients comparing the two treatments head to head showed better outcomes with potassium citrate with respect to prevention of recurrent stones.
	intmedweb.wfubmc.edu /blurbs/neph/renal.html (534 words)

	Mammalian Distal Tubule: Physiology, Pathophysiology, and Molecular Anatomy -- Reilly and Ellison 80 (1): 277 -- ...
		The distal tubule of the mammalian kidney, defined as the nephron segment interposed between the macula densa region and the
		In superficial nephrons, distal tubule comprises distal convoluted tubule (DCT, shown in white), a short connecting tubule (CNT, shown as hatched), and a portion of collecting duct epithelium (shown in white) that begins proximal to junction to form collecting duct.
		of the distal tubule comprises primarily DCT, CNT, and intercalated
	physrev.physiology.org /cgi/content/full/80/1/277 (8732 words)

	2000, Primary Sclerosing Cholangitis Literature
		Bianchi FB, Muratori L 2000 Primary and secondary autoimmunity in hepatology.
		Davidson BK, Haslock I 2000 Osteomalacia secondary to renal tubular acidosis masquerading as primary biliary cirrhosis.
		Gow PJ, Chapman RW 2000 Liver transplantation for primary sclerosing cholangitis.
	www.psc-literature.org /2000.htm (10256 words)

	NDI - Journal Articles by Author - R (Site not responding. Last check: 2007-10-30)
		A dileucine sequence and an upstream glutamate residue in the intracellular carboxyl terminus of the vasopressin V2 receptor are essential for cell surface transport in COS.M6 cells.
		A heterotrimeric G protein of the Gi family is required for cAMP-triggered trafficking of aquaporin 2 in kidney epithelial cells.
		Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.
	www.ndif.org /jauth-r.html (1963 words)

	[No title]
		familial combined hyperlipidemia familial combined hyperlipidemia familial defective apolipoprotein B familial defective apolipoprotein B-100 in a Chinese man familial defective apolipoprotein B100.
		familial diabetes insipidus familial dysbetalipoproteinemia familial hypercholesterolaemia familial hypercholesterolemia.
		pregnancy-induced chylomicronemia premalignant oral lesions and oral squamous cell carcinoma premature coronary artery disease premature coronary artery disease and familial hypoalphalipoproteinemia premature coronary artery disease.
	geneticassociationdb.nih.gov /disease.txt (1404 words)

	Distal myopathy, Nonaka type (Site not responding. Last check: 2007-10-30)
		Usually found in families of Japanese descent, this form of distal muscular dystrophy...
		Dissociative identity disorder Distal arthrogryposis Moore Weaver type Distal myopathy Markesbery-Griggs type Distal myopathy with vocal cord weakness Distal myopathy, Nonaka type Distal myopathy...
		Distal myopathy, Nonaka type: Distal primary acidosis, familial: Distichiasis heart congenital anomalies
	dampffreunde.de /40936 (254 words)

	Secretory-Defect Distal Renal Tubular Acidosis Is Associated with Transporter Defect in H+-ATPase and Anion Exchanger-1 ...
		Secretory-Defect Distal Renal Tubular Acidosis Is Associated with Transporter Defect in H+-ATPase and Anion Exchanger-1 -- Han et al.
		distal components to the renal tubular acidosis (26).
		-ATPase cause renal tubular acidosis with sensorineural deafness.
	jasn.asnjournals.org /cgi/content/full/13/6/1425 (3157 words)

	Sodium and potassium handling by the aldosterone-sensitive distal nephron: the pivotal role of the distal and ...
		Sodium and potassium handling by the aldosterone-sensitive distal nephron: the pivotal role of the distal and connecting tubule -- Meneton et al.
		In rat, mouse, and human, the sodium/chloride cotransporter (NCC) characterizes the DCT and colocalizes in the late DCT with the epithelial sodium channel (ENaC), which is also expressed in the CNT and CCD (4, 48).
		distal nephron is very similar in these different species (8).
	ajprenal.physiology.org /cgi/content/full/287/4/F593 (7050 words)

	Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1 -- Quilty et al. ...
		Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1 -- Quilty et al.
		Distal renal tubular acidosis (dRTA) is an inherited disease characterized by the failure of the kidneys to appropriately
		Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl exchanger.
	ajprenal.physiology.org /cgi/content/full/282/5/F810 (7270 words)

	Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate ...
		Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport -- Warth et al.
		A large outward current was elicited upon DIDS washout in low buffered bath solution (A, 1 mM Hepes), which was absent in highly buffered external medium (B) and in task2 –/– cells (C).
		in human distal tubules and cortical collecting ducts (16).
	www.pnas.org /cgi/content/full/101/21/8215 (3757 words)

	Ataxia associated with Hashimoto's disease: progressive non-familial adult onset cerebellar degeneration with ...
		with slight distal weakness (5-/5) in all limbs.
		There was no family history of cerebellar symptoms.
		A form of familial degeneration of the cerebellum.
	jnnp.bmjjournals.com /cgi/content/full/71/1/81 (3264 words)

	2005, Primary Sclerosing Cholangitis Literature
		Abrams B 2005 Long-term sleep apnea as a pathogenic factor for cell-mediated autoimmune disease.
		Altschuler EL, Kast RE 2005 Bupropion for fatigue and as a tumor necrosis factor-alpha lowering agent in primary biliary cirrhosis.
		Anaya JM, Mantilla RD, Correa PA 2005 Immunogenetics of primary Sjogren's syndrome in Colombians.
	www.psc-literature.org /2005.htm (10727 words)

	Hypercalciuria in Familial Hyperkalemia and Hypertension Accompanies Hyperkalemia and Precedes Hypertension: ...
		Hypercalciuria in Familial Hyperkalemia and Hypertension Accompanies Hyperkalemia and Precedes Hypertension: Description of a Large Family with the Q565E WNK4 Mutation -- Mayan et al.
		Farfel Z, Iaina A, Levi J, Gafni J 1978 Proximal renal tubular acidosis associated with familial normaldosteronemic hyperpotassemia and hypertension.
		Gitelman HJ, Graham JB, Welt LG 1966 A new familial disorder characterized by hypokalemia and hypomagnesemia.
	jcem.endojournals.org /cgi/content/full/89/8/4025 (3412 words)

	Inherited Distal Renal Tubular Acidosis -- Karet 13 (8): 2178 -- Journal of the American Society of Nephrology
		Quilty JA, Li J, Reithmeier RA: Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.
		Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE: Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
		Sly W, Shah GN: Osteopetrosis with renal tubular acidosis and cerebral calcification.
	jasn.asnjournals.org /cgi/content/full/13/8/2178 (4647 words)

	Mioti: Category Results (Site not responding. Last check: 2007-10-30)
		Includes a description of the condition, diagnosis, treatment and prevention.
		We take a pragmatic approach to authoring: we look out for topical issues, keep track of the journals and update material in response to user feedback.
		Information from the University of Iowa Family Practice Handbook.
	www.mioti.com /pro/catresults/sub.asp?Cat=Acidosis&ic=032 (304 words)

	Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for ...
		Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss -- Stover et al.
		Autosomal recessive distal renal tubular acidosis (rdRTA) is
		Hearing impairment in association with distal renal tubular acidosis among Saudi children.
	jmg.bmjjournals.com /cgi/content/full/39/11/796 (4482 words)

	Mitochondrial Disorders
		Also see: Familial bilateral striatal necrosis, autosomal recessive (19q13)
		Large families with maternal inheritance: G11778 and T14484C mutations
		Common (45%) cause of familial PEO with multiple mitochondrial DNA deletions
	www.neuro.wustl.edu /neuromuscular/mitosyn.html (3203 words)

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