Inborn errors of renal tubular transport

Inborn errors of renal tubular transport
Classification and external resources
MeSH	D015499

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.

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Lysine/straight chain	Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria

Leucine	Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Tryptophan	Hypertryptophanemia

Histidine	Carnosinemia · Histidinemia · Urocanic aciduria

Proline	Hyperprolinemia · Prolidase deficiency

Glutamate/glutamine	SSADHD

Valine	Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency

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

Methionine	Hypermethioninemia · Homocystinuria · Cystathioninuria

General BC/OA	Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency


Urea cycle/Hyperammonemia (arginine, aspartate)	N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency · Ornithine transcarbamylase deficiency/translocase deficiency · Citrullinemia · Argininosuccinic aciduria · Argininemia

Transport/
IE of RTT

Other

see also Amino acid metabolism enzymes, intermediates
see also Urea cycle enzymes, intermediates

Abdominal

Primarily
nephrotic

Non-proliferative	.0 Minimal change · .1 Focal segmental · .2 Membranous

Proliferative	.3 Mesangial proliferative · .4 Endocapillary proliferative .5/.6 Membranoproliferative/mesangiocapillary

By condition	Diabetic · Amyloidosis

Primarily
nephritic,
.7 RPG

Type I RPG/Type II hypersensitivity	Goodpasture's syndrome

Type II RPG/Type III hypersensitivity	Post-streptococcal · Lupus (DPN) · IgA/Berger's

Type III RPG/Pauci-immune	Wegener's granulomatosis · Microscopic polyangiitis

Any/all

General syndromes	Renal failure (Acute renal failure, Chronic renal failure) · Uremic pericarditis · Uremia

Vascular	Renal artery stenosis · Hypertensive nephropathy · Renovascular hypertension

Other	Analgesic nephropathy · Renal osteodystrophy · Nephroptosis · Abderhalden-Kaufmann-Lignac syndrome

Pelvic

Bladder	Cystitis (Interstitial cystitis/painful bladder syndrome, Hunner's ulcer, Trigonitis, Hemorrhagic cystitis) · Neurogenic bladder · Vesicointestinal fistula · Vesicoureteral reflux

Urethra	Urethritis (Non-gonococcal urethritis) · Urethral syndrome · Urethral stricture

Any/all

See also congenital, neoplasia, symptoms/signs