近位尿細管性アシドーシス
WordNet
- constituting a tube; having hollow tubes (as for the passage of fluids) (同)cannular, tubelike, tube-shaped, vasiform
- situated nearest to point of attachment or origin; "the proximal end of a bone"
- abnormally high acidity (excess hydrogen-ion concentration) of the blood and other body tissues
PrepTutorEJDIC
- 管状の,管から成る
- (骨などが)近位の(体の中心に近いこと)
- 酸性症,酸中毒(血液中のアルカリ濃度が異常に低い状態)
- 腎臓の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/22 03:05:48」(JST)
[Wiki en表示]
| Proximal renal tubular acidosis |
| Classification and external resources |
| OMIM |
179830 |
| DiseasesDB |
11687 |
| MedlinePlus |
000497 |
| MeSH |
D000141 |
Proximal renal tubular acidosis (pRTA) or Type 2 Renal tubular acidosis (RTA) is a type of RTA caused by a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. The distal intercalated cells function normally, so the acidemia is less severe than dRTA and the urine can acidify to a pH of less than 5.3.[1] pRTA also has several causes, and may occasionally be present as a solitary defect, but is usually associated with a more generalised dysfunction of the proximal tubular cells called Fanconi syndrome where there is also phosphaturia, glycosuria, aminoaciduria, uricosuria and tubular proteinuria.
The principal feature of Fanconi syndrome is bone demineralization (osteomalacia or rickets) due to phosphate wasting.
Contents
- 1 Causes
- 2 Treatment
- 3 See also
- 4 References
Causes
Familial disorders
- Cystinosis[2]
- Galactosemia[3]
- Glycogen storage disease (type I)[4]
- Hereditary fructose intolerance[5]
- Lowe syndrome[6]
- Tyrosinemia
- Wilson's disease[7]
Acquired disorders
- Amyloidosis[8]
- Multiple myeloma[9]
- Paroxysmal nocturnal hemoglobinuria[10]
- Toxins, such as HAART, ifosfamide,[11] lead, and cadmium
Treatment
Again this depends on oral bicarbonate supplementation. However, this will increase urinary bicarbonate wasting and may well promote a bicarbonate diuresis. The amount of bicarbonate given may have to be very large, to stay ahead of the urinary losses. Correction with oral bicarbonate may exacerbate urinary potassium losses and precipitate hypokalemia.[12] As with dRTA, reversal of the chronic acidosis should reverse bone demineralization.[13]
Thiazide diuretics can also be used as treatment by making use of contraction alkalosis caused by them.
See also
- Renal tubular acidosis
- Distal renal tubular acidosis
References
- ^ Rodriguez Soriano J, Boichis H, Stark H, Edelmann CM (1967). "Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification". Pediatr. Res. 1 (2): 81–98. doi:10.1203/00006450-196703000-00001. PMID 6029811.
- ^ Gahl WA, Thoene JG, Schneider JA (2002). "Cystinosis". N. Engl. J. Med. 347 (2): 111–21. doi:10.1056/NEJMra020552. PMID 12110740.
- ^ Golberg L, Holzel A, Komrower GM, Schwarz V (1956). "A clinical and biochemical study of galactosaemia; a possible explanation of the nature of the biochemical lesion". Arch. Dis. Child. 31 (158): 254–64. doi:10.1136/adc.31.158.254. PMC 2011923. PMID 13363463.
- ^ Matsuo N, Tsuchiya Y, Cho H, Nagai T, Tsuji A (1986). "Proximal renal tubular acidosis in a child with type 1 glycogen storage disease". Acta Paediatr Scand 75 (2): 332–5. doi:10.1111/j.1651-2227.1986.tb10210.x. PMID 3457521.
- ^ Morris RC (1968). "An experimental renal acidification defect in patients with hereditary fructose intolerance. I. Its resemblance to renal tubular acidosis". J. Clin. Invest. 47 (6): 1389–98. doi:10.1172/JCI105830. PMC 297294. PMID 5653216.
- ^ Hodgson SV, Heckmatt JZ, Hughes E, Crolla JA, Dubowitz V, Bobrow M (1986). "A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome". Am. J. Med. Genet. 23 (3): 837–47. doi:10.1002/ajmg.1320230311. PMID 3953680.
- ^ Weibers, DO; Wilson, DM; McLeod, RA; Goldstein, NP (August 1979). "Renal stones in Wilson's disease". Am J Med 67 (2): 249–54. doi:10.1016/0002-9343(79)90399-1. PMID 463930. [dead link]
- ^ Rochman, J; Lichtig, C; Osterweill, D; Tatarsky, I; Eidelman, S (October 1980). "Adult Fanconi's syndrome with renal tubular acidosis in association with renal amyloidosis: occurrence in a patient with chronic lymphocytic leukemia". Arch Int Med 140 (10): 1361–3. doi:10.1001/archinte.140.10.1361. PMID 6775610.
- ^ Messiaen T, Deret S, Mougenot B et al. (2000). "Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients". Medicine (Baltimore) 79 (3): 135–54. doi:10.1097/00005792-200005000-00002. PMID 10844934.
- ^ Riley AL, Ryan LM, Roth DA (1977). "Renal proximal tubular dysfunction and paroxysmal nocturnal hemoglobinuria". Am. J. Med. 62 (1): 125–9. doi:10.1016/0002-9343(77)90357-6. PMID 13653.
- ^ Skinner R (2003). "Chronic ifosfamide nephrotoxicity in children". Med. Pediatr. Oncol. 41 (3): 190–7. doi:10.1002/mpo.10336. PMID 12868118.
- ^ Rodríguez Soriano J (2002). "Renal tubular acidosis: the clinical entity". J. Am. Soc. Nephrol. 13 (8): 2160–70. doi:10.1097/01.ASN.0000023430.92674.E5. PMID 12138150.
- ^ McSherry E (1981). "Renal tubular acidosis in childhood". Kidney Int. 20 (6): 799–809. doi:10.1038/ki.1981.213. PMID 7038264.
- Urinary system
- Pathology
- Urologic disease / Uropathy (N00–N39, 580–599)
|
|
| Abdominal |
Nephropathy/
(nephritis+
nephrosis) |
Glomerulopathy/
glomerulitis/
(glomerulonephritis+
glomerulonephrosis) |
Primarily
nephrotic |
| Non-proliferative |
- Minimal change
- Focal segmental
- Membranous
|
|
| Proliferative |
- Mesangial proliferative
- Endocapillary proliferative
- Membranoproliferative/mesangiocapillary
|
|
| By condition |
|
|
|
Primarily
nephritic,
RPG |
| Type I RPG/Type II hypersensitivity |
|
|
| Type II RPG/Type III hypersensitivity |
- Post-streptococcal
- Lupus
- IgA/Berger's
|
|
| Type III RPG/Pauci-immune |
- Granulomatosis with polyangiitis
- Microscopic polyangiitis
- Churg–Strauss syndrome
|
|
|
|
Tubulopathy/
tubulitis |
| Proximal |
|
|
| Thick ascending |
|
|
| Distal convoluted |
|
|
| Collecting duct |
- Liddle's syndrome
- RTA
- Diabetes insipidus
|
|
| Renal papilla |
|
|
| Major calyx/pelvis |
- Hydronephrosis
- Pyonephrosis
- Reflux nephropathy
|
|
| Any/all |
|
|
|
| Interstitium |
- Interstitial nephritis
- Pyelonephritis
- Danubian endemic familial nephropathy
|
|
| Any/all |
| General syndromes |
- Renal failure
- Acute renal failure
- Chronic kidney disease
- Uremic pericarditis
- Uremia
|
|
| Vascular |
- Renal artery stenosis
- Renal ischemia
- Hypertensive nephropathy
- Renovascular hypertension
- Renal cortical necrosis
|
|
| Other |
- Analgesic nephropathy
- Renal osteodystrophy
- Nephroptosis
- Abderhalden–Kaufmann–Lignac syndrome
|
|
|
|
| Ureter |
- Ureteritis
- Ureterocele
- Megaureter
|
|
|
| Pelvic |
| Bladder |
- Cystitis
- Interstitial cystitis
- Hunner's ulcer
- Trigonitis
- Hemorrhagic cystitis
- Neurogenic bladder dysfunction
- Bladder sphincter dyssynergia
- Vesicointestinal fistula
- Vesicoureteral reflux
|
|
| Urethra |
- Urethritis
- Non-gonococcal urethritis
- Urethral syndrome
- Urethral stricture/Meatal stenosis
- Urethral caruncle
|
|
|
| Any/all |
- Obstructive uropathy
- Urinary tract infection
- Retroperitoneal fibrosis
- Urolithiasis
- Bladder stone
- Kidney stone
- Renal colic
- Malakoplakia
- Urinary incontinence
|
|
|
Index of the urinary system
|
|
| Description |
- Anatomy
- Physiology
- Development
- Cells
|
|
| Disease |
- Electrolyte and acid-base
- Congenital
- Neoplasms and cancer
- Other
- Symptoms and signs
- Urine tests
- Blood tests
|
|
| Treatment |
- Procedures
- Drugs
- Intravenous fluids
|
|
|
|
Water-electrolyte imbalance and acid-base imbalance (E86–E87, 276)
|
|
| Volume status |
- Volume contraction (Dehydration/Hypovolemia)
- Hypervolemia
|
|
| Electrolyte |
| Sodium |
- Hypernatremia
- Hyponatremia (Hypotonic, Isotonic)
|
|
| Potassium |
|
|
| Chloride |
- Hyperchloremia
- Hypochloremia
|
|
| Calcium |
- Hypercalcaemia
- Hypocalcaemia
|
|
|
| Acid-base |
| Acidosis |
- Metabolic: High anion gap (Ketoacidosis/Diabetic ketoacidosis, Lactic)
- Normal anion gap (Hyperchloremic, Renal tubular)
|
|
| Alkalosis |
- Metabolic: Contraction alkalosis
|
|
| Both |
- Mixed disorder of acid-base balance
|
|
|
|
Index of the urinary system
|
|
| Description |
- Anatomy
- Physiology
- Development
- Cells
|
|
| Disease |
- Electrolyte and acid-base
- Congenital
- Neoplasms and cancer
- Other
- Symptoms and signs
- Urine tests
- Blood tests
|
|
| Treatment |
- Procedures
- Drugs
- Intravenous fluids
|
|
|
UpToDate Contents
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English Journal
- Recent advances in understanding renal ammonia metabolism and transport.
- Weiner ID1, Verlander JW.
- Current opinion in nephrology and hypertension.Curr Opin Nephrol Hypertens.2016 Sep;25(5):436-43. doi: 10.1097/MNH.0000000000000255.
- PURPOSE OF REVIEW: The purpose of this review is to provide a succinct description of the recent findings that advance our understanding of the fundamental renal process of ammonia metabolism and transport in conditions relevant to the clinician.RECENT FINDINGS: Recent studies advance our understand
- PMID 27367914
- Na(+), K(+), Cl(-), acid-base or H2O homeostasis in children with urinary tract infections: a narrative review.
- Bertini A1, Milani GP2, Simonetti GD1,3, Fossali EF2, Faré PB4, Bianchetti MG1, Lava SA5,6.
- Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2016 Sep;31(9):1403-9. doi: 10.1007/s00467-015-3273-5. Epub 2015 Dec 23.
- Guidelines on the diagnosis and management of urinary tract infections in childhood do not address the issue of abnormalities in Na(+), K(+), Cl(-) and acid-base balance. We have conducted a narrative review of the literature with the aim to describe the underlying mechanisms of these abnormalities
- PMID 26701834
- Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
- Piret SE1, Gorvin CM1, Trinh A2, Taylor J3, Lise S4,5, Taylor JC4,5, Ebeling PR2, Thakker RV1.
- American journal of medical genetics. Part A.Am J Med Genet A.2016 Aug 19. doi: 10.1002/ajmg.a.37755. [Epub ahead of print]
- The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequenc
- PMID 27540713
Japanese Journal
- Clinical Evaluation of Chinese Patients with Primary Distal Renal Tubular Acidosis
- HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Renal Tubular Acidosis and Endocrine Abnormalities
- Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities
Related Links
- Proximal renal tubular acidosis is a disease that occurs when the kidneys don't properly remove acids from the blood into the urine. As a result, too much ... When the body performs its normal functions, it produces ...
- Proximal renal tubular acidosis (RTA) (Type II RTA) is characterized by a defect in the ability to reabsorb HCO 3 in the proximal tubule. This is usually manifested as bicarbonate wastage in the urine reflecting that the ...
Related Pictures
★リンクテーブル★
[★]
- 英
- proximal renal tubular acidosis, proximal RTA, pRTA, proximal tubular acidosis
- 同
- 2型尿細管性アシドーシス、II型尿細管性アシドーシス、尿細管性アシドーシス2型、尿細管性アシドーシスII型
- 2型腎尿細管性アシドーシス、II型腎尿細管性アシドーシス、腎尿細管性アシドーシス2型、腎尿細管性アシドーシスII型
- type 2 renal tubular acidosis, type II renal tubular acidosis, renal tubular acidosis type 2, renal tubular acidosis type II
- type 2 RTA, type II RTA, RTA type 2, RTA type II
- 関
- 尿細管性アシドーシス、アシドーシス。遠位尿細管性アシドーシス
[show details]
概念
- 腎尿細管アシドーシスの中で、近位尿細管における重炭酸イオン再吸収障害に伴う酸排泄障害を原因とするものをいう。
- アニオンギャップが正常な高Cl性の代謝性アシドーシス
病因
- 参考1
-
- 多発性骨髄腫 → 成人におけるRTA type 2の原因で最多
- 薬物性
病態
- 参考1
- 重炭酸が何らかの原因により再吸収されない。 → 高Cl性代謝性アシドーシス
- リン酸、グルコース、尿酸、アミノ酸が再吸収されない。 → 低リン酸血症、腎性糖尿、低尿酸症、アミノ酸尿
- 水・電解質と酸塩基平衡 改訂第2版 p.151
- 近位尿細管で重炭酸イオン(その他各種電解質も)の再吸収が低下するために血清HCO3-が低下する
- 血清HCO3-が15mEq/l以下になると再吸収が可能となるので、proximal RTAにおいて血清HCO3-が15-17mEq/l以下になることはまれ。
- YN
- 近位尿細管におけるNa+/H+交輸送体の異常や、炭酸脱水酵素遺伝子異常、Na+/HCO3-共輸送体遺伝子異常
治療
- アシドーシス補正：重曹
- 低カリウム血症：カリウム補充
参考
- わかりにくい
- http://omim.org/entry/179830
- 2. [charged] Etiology and diagnosis of distal (type 1) and proximal (type 2) renal tubular acidosis - uptodate [1]
- 3. [charged] Pathophysiology of renal tubular acidosis and the effect on potassium balance - uptodate [2]
[★]
- 関
- canalicular、kidney tubule、renal tubular、renal tubule、tracheary、tubule、uriniferous tubule
[★]
- 関
- basilar、basilaris、juxtaposition、proximal portion、proximal region、proximally、proximate、stem
[★]
- 関
- kidney tubule、renal tubule、tubular、tubule、uriniferous tubule
[★]
- 関
- kidney、renally
[★]
アシドーシス