Inborn errors of renal tubular transport

Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be transported across the brush border of the renal tubule. This results in disruptions of renal reabsorption.

Examples of these disorders include Iminoglycinuria, renal tubular acidosis and Gitelman syndrome.

## References

## External links

Classification|

* MeSH: D015499

|

* v
* t
* e

Inborn error of amino acid metabolism (E70–E72, 270)

[[Chemistry:Ketogenic amino K→acetyl-CoA]]|

| Lysine/straight chain|

* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria

|

Leucine|

* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease

Tryptophan|

* Hypertryptophanemia

| G→pyruvate→citrate|

| Glycine|

* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia

* Glycine]]→Creatine: GAMT deficiency
* Glycine encephalopathy

|

G→glutamate→
α-ketoglutarate|

| Histidine|

* Carnosinemia
* Histidinemia
* Urocanic aciduria

|

Proline|

* Hyperprolinemia
* Prolidase deficiency

Glutamate/glutamine|

* SSADHD

G→propionyl-CoA→
succinyl-CoA|

| Valine|

* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease

|

Isoleucine|

* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease

Methionine|

* Cystathioninuria
* Homocystinuria
* Hypermethioninemia

General BC/OA|

* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia

G→fumarate|

| [[Chemistry:PhenylPhenylalanine]]/tyrosine|

| Phenylketonuria|

* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency

|

Tyrosinemia|

* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria

Tyrosine→Melanin|

* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome

Tyrosine→Norepinephrine|

* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome

G→oxaloacetate|

| Urea cycle/Hyperammonemia
(arginine

* aspartate)

* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency

|

Transport/
IE of RTT|

* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance

* Fanconi syndrome: Oculocerebrorenal syndrome]]
* Cystinosis

Other|

* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria

* v
* t
* e

Diseases of the urinary system (N00–N39, 580–599)

Kidney disease|

| Glomerules|

| Primarily
nephrotic|

| Non-proliferative|

* Minimal change
* Focal segmental
* Membranous

|

Proliferative|

* Mesangial proliferative
* Endocapillary proliferative
* Membranoproliferative/mesangiocapillary

By condition|

* Diabetic
* Amyloidosis

Primarily
nephritic,
RPG|

| Type I RPG/Type II hypersensitivity|

* Goodpasture's syndrome

|

Type II RPG/Type III hypersensitivity|

* Post-streptococcal
* Lupus
* DPGN
* IgA/Berger's

Type III RPG/Pauci-immune|

* Granulomatosis with polyangiitis
* Microscopic polyangiitis
* Eosinophilic granulomatosis with polyangiitis

General|

* glomerulonephritis
* glomerulonephrosis

Tubules|

* Renal tubular acidosis
* proximal
* distal
* Acute tubular necrosis
* Genetic
* Fanconi syndrome
* Bartter syndrome
* Gitelman syndrome
* Liddle's syndrome

Interstitium|

* Interstitial nephritis
* Pyelonephritis
* Balkan endemic nephropathy

General|

| General syndromes|

* Nephritis
* Nephrosis
* Renal failure
* Acute renal failure
* Chronic kidney disease
* Uremic pericarditis
* Uremia
* Diabetes insipidus
* Nephrogenic
* Renal papilla
* Renal papillary necrosis
* Major calyx/pelvis
* Hydronephrosis
* Pyonephrosis
* Reflux nephropathy

|

Vascular|

* Renal artery stenosis
* Renal ischemia
* Hypertensive nephropathy
* Renovascular hypertension
* Renal cortical necrosis

Other|

* Analgesic nephropathy
* Renal osteodystrophy
* Nephroptosis
* Abderhalden–Kaufmann–Lignac syndrome

Urinary tract|

| Ureter|

* Ureteritis
* Ureterocele
* Megaureter

|

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
* Stress
* Urge
* Overflow

0.00

(0 votes)

Original source: https://en.wikipedia.org/wiki/Inborn errors of renal tubular transport. Read more

|

Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Inborn_errors_of_renal_tubular_transport&oldid=532758"
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template