Inborn Errors of Renal Tubular Transport | Inborn Errors 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.

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

K→acetyl-CoA

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 3-Methylglutaconic aciduria 1

Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine

Sarcosinemia
D-Glyceric acidemia
Glutathione synthetase deficiency

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	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

G→fumarate

Phenylalanine/tyrosine

Phenylketonuria	Tetrahydrobiopterin deficiency 6-Pyruvoyltetrahydropterin synthase deficiency

Tyrosinemia	Type II tyrosinemia Type III tyrosinemia/Hawkinsinuria Alkaptonuria/Ochronosis Type I tyrosinemia

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

Transport/
IE of RTT

Solute carrier family: Cystinuria
Hartnup disease
Lysinuric protein intolerance
Iminoglycinuria

Fanconi syndrome: Oculocerebrorenal syndrome
Cystinosis

Other

Trimethylaminuria
2-Hydroxyglutaric aciduria
Fumarase deficiency
Ethylmalonic encephalopathy

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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	Diabetic · Amyloidosis

Primarily
nephritic,
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 · Churg-Strauss Syndrome

Tubulopathy/
tubulitis

Proximal	RTA (RTA 2) · Fanconi syndrome

Thick ascending	Bartter syndrome

Distal convoluted	Gitelman syndrome

Collecting duct	Liddle's syndrome · RTA (RTA 1) · Diabetes insipidus (Nephrogenic)

Renal papilla	Renal papillary necrosis

Major calyx/pelvis	Hydronephrosis · Pyonephrosis · Reflux nephropathy

Any/all	Acute tubular necrosis

Interstitium

Interstitial nephritis (Pyelonephritis, Danubian endemic familial nephropathy)

Any/all

General syndromes	Renal failure (Acute renal failure, Chronic renal failure) · 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 · 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) · Malacoplakia · Urinary incontinence (Stress, Urge, Overflow)

M: URI

anat/phys/devp/cell

noco/acba/cong/tumr, sysi/epon, urte

proc/itvp, drug (G4B), blte, urte

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