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Abderhalden–Kaufmann–Lignac syndrome

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List of terms related to Abderhalden–Kaufmann–Lignac syndrome
Abderhalden–Kaufmann–Lignac syndrome
Other namesAbderhalden–Lignac–Kaufmann disease[1]
Autorecessive.svg
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 aminoaciduria, glycosuria and hypokalemia.

Cysteine deposition is most evident in the conjunctiva and cornea.

Diagnosis

Treatment

Eponym

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

See also

References

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

External links

Classification
External resources


Health science - Medicine - Nephrology - edit
Diseases of the glomerulus
Lupus nephritis | Post-infectious glomerulonephritis | Minimal change disease | Focal segmental glomerulosclerosis | Diabetic nephropathy
Diseases of the proximal convoluted tubules
Fanconi syndrome (Type II renal tubular acidosis) | renal cell carcinoma
Diseases of the distal convoluted tubules
pseudohypoaldosteronism (Type IV renal tubular acidosis)
Diseases of the collecting duct
Type I renal tubular acidosis
Tumours of the kidney
renal cell carcinoma | Wilms' tumour (children)
Diseases of the renal vasculature
renal artery stenosis | vasculitis | atheroembolic disease
Tubulointerstitial diseases of the kidney
Drug-induced interstitial nephritis | Obstructive nephropathy | Radiation nephritis | Reflux nephropathy | Sarcoidosis
Genetic diseases of the kidney/syndromes associated with kidney dysfunction
Alport syndrome | Polycystic kidney disease | Wilms' tumour (children)

von Hippel-Lindau syndrome | Hereditary papillary renal carcinoma | Birt-Hogg-Dube syndrome | Hereditary renal carcinoma

Genetic diseases of the kidney/syndromes associated with kidney dysfunction

Chronic Kidney Disease

Anemia in CKD | Causes of CKD | CKD Overview | CKD Tests and Diagnosis | Diabetic Kidney Disease | Eating Right for CKD | High Blood Pressure and Kidney Disease | Managing CKD | Mineral and Bone Disorder in CKD | Nutrition for Advanced CKD in Adults | Preventing CKD | Quick Reference on UACR & GFR

Kidney Failure

Eating and Nutrition for Hemodialysis | Financial Help for Treatment of Kidney Failure | Hemodialysis | Kidney Failure | Kidney Transplant | Peritoneal Dialysis

Other Kidney Topics

Acquired Cystic Kidney Disease | Amyloidosis and Kidney Disease | Diabetes Insipidus | Ectopic Kidney | Glomerular Diseases | Goodpasture Syndrome | Henoch-Schönlein Purpura | IgA Nephropathy | Kidney Dysplasia | Kidney Infection (Pyelonephritis) | Kidney Stones | Lupus Nephritis | Medullary Sponge Kidney | Nephrotic Syndrome in Adults | Pain Medicine and Kidney Damage | Polycystic Kidney Disease (PKD) | Renal Artery Stenosis | Renal Tubular Acidosis | Simple Kidney Cysts | Solitary Kidney | Your Kidneys and How They Work | Your Urinary Tract and How It Works


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