Abderhalden-Kaufmann-Lignac syndrome

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Abderhalden-Kaufmann-Lignac syndrome
ICD-9	270.0

Synonyms and keywords: Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis

Overview

Abderhalden-Kaufmann-Lignac syndrome, also called Abderhalden-Lignac-Kaufmann disease or nephropathic cystinosis, is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets.

Historical Perspective

It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.^[1]^[2]

History and Symptoms

Presentation

Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia.Cysteine deposition is most evident in the conjunctiva and cornea.

Abderhalden-Kaufmann-Lignac syndrome has an autosomal recessive pattern of inheritance.

Related Chapters

Cystinosin

References

↑ B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7
↑ Who Named It?

v • d • e

Urinary system · Pathology · Urologic disease / Uropathy (N00-N39, 580-599)

Abdominal

Nephropathy/
(nephritis+
nephrosis)

Glomerulopathy/
glomerulitis/
(glomerulonephritis+
glomerulonephrosis)

By appearance

Non-proliferative	.0 Minimal change · .1 Focal segmental · .2 Membranous
Proliferative	.3 Mesangial proliferative · .4 Endocapillary proliferative .5/.6 Membranoproliferative/mesangiocapillary · .7 Rapidly progressive/crescentic

By syndrome

Nephritic syndrome · Nephrotic syndrome

By condition

IgA/Berger's · Diabetic · Post-streptococcal · Lupus · Amyloidosis

Tubulopathy/
tubulitis

Proximal	RTA (RTA 2)
Thick ascending	Bartter syndrome
Distal convoluted	Gitelman syndrome
Collecting duct	Liddle's syndrome · RTA (RTA 1) · Nephrogenic diabetes insipidus
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)
Vascular	Renal artery stenosis · Hypertensive nephropathy · Renovascular hypertension
Other	Analgesic nephropathy · Renal osteodystrophy · Nephroptosis · Abderhalden-Kaufmann-Lignac syndrome

Ureter

Ureteritis · Ureterocele · Megaureter

Pelvic

Bladder	Cystitis (Interstitial cystitis, Trigonitis) · Neurogenic bladder · Vesicointestinal fistula · Vesicoureteral reflux
Urethra	Urethritis (Non-gonococcal urethritis) · Urethral syndrome · Urethral stricture