Abderhalden–Kaufmann–Lignac syndrome

Abderhalden–Kaufmann–Lignac syndrome
Abderhalden–Kaufmann–Lignac syndrome
Other names	Abderhalden–Lignac–Kaufmann disease
	Abderhalden–Kaufmann–Lignac syndrome has an autosomal recessive pattern of inheritance.

Abderhalden–Kaufmann–Lignac syndrome (AKL syndrome), also called nephropathic cystinosis, is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets.

Presentation[]

Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing , glycosuria and hypokalemia.

Cysteine deposition is most evident in the conjunctiva and cornea.

Diagnosis[]

Treatment[]

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Eponym[]

It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.^[2]^[3]

References[]

^ "Abderhalden Kaufmann Lignac syndrome". rarediseases.info.nih.gov. Retrieved 15 May 2018.
^ B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7
^ Who Named It?

External links[]

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[GARD2018-1] "Abderhalden Kaufmann Lignac syndrome". rarediseases.info.nih.gov. Retrieved 15 May 2018.

[2] B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7

[3] Who Named It?

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[3]

Classification	D ICD-10: E72.0+ N16.3* ICD-9-CM: 270.0 OMIM: 219800 MeSH: C535335
External resources	Orphanet: 411629

v t Kidney disease
Glomerular disease	See Template:Glomerular disease
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
Vascular	Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis
General syndromes	Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia
Other	Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx/pelvis Hydronephrosis Pyonephrosis Reflux nephropathy