Abderhalden-Kaufmann-Lignac syndrome is an autosomal recessive disorder in which deposits of cystine crystals are found in lysosomes of the liver, spleen, bone marrow, cornea, conjunctiva and renal tubules due to abnormal metabolism of cystine. A whole range of symptoms are possible, including, for example, dwarfism and photophobia. The extremely rare syndrome has been described by Emil Abderhalden, Eduard Kaufmann and George Lignac.
- Synonyms Abderhalden-Kaufmann-Lignac syndrome
- Epidemiology disease
- Causes of the condition
- Symptoms: Kidneys, eyes, blood
- Diagnosis and examinations
- Therapy
- Prognosis
Synonyms Abderhalden-Kaufmann-Lignac syndrome
The Abderhalden-Kaufmann-Lignac syndrome is also known under these synonyms:
- the AKL syndrome
- nephropathic cystinosis
Epidemiology disease
The incidence of Abderhalden-Kaufmann-Lignac syndrome is 1:100,000 to 1:200,000. Cystinosis (abnormalities in the kidneys, eyes and other organs) mainly occurs in children. The syndrome occurs in brothers and sisters, but in the literature it has not been described in different generations.
Causes of the condition
The inheritance of this condition is autosomal recessive. This means that both copies of the mutated gene are needed to cause the condition.
Symptoms: Kidneys, eyes, blood
A whole range of symptoms are possible; However, they are not all present at the same time in everyone: vomiting (due to acidosis), constipation, dwarfism, episodes of fever and dehydration (medical term: “dehydration”), photophobia (medical term for photophobia), hepatosplenomegaly: abnormal enlargement of liver and spleen, renal tubular abnormalities, osteomalacia (softening of bone/bone system) / osteoporosis (loss of bone mass with risk of bone fractures) (in adults), polyuria (large amounts of urination) and polydipsia (excessive drinking), rickets (bone disorder due to a lack of vitamin D, calcium or phosphate) (in children): English disease: bone disorder caused by a deficiency of vitamin D and calcium and muscle weakness.
Diagnosis and examinations
Imaging
A CT scan and MRI are necessary in adult patients with infantile nephropathic cystinosis. Nephrocalcinosis can be ruled out via renal ultrasound in patients with increased calcium excretion in the urine. In addition, radiography of the kidneys, ureter and bladder (radiographic examination) is necessary to detect hypercalciuria or for a diagnostic evaluation in severe abdominal pain.
Blood tests
The blood test shows that the patient suffers from cystinosis. The cystine level in the white blood cells is increased. The determination of the cystine level in polymorphonuclear leukocytes or cultured fibroblasts (white blood cells) is the most important measuring instrument of Abderhalden-Kaufmann-Lignac syndrome. The blood also shows signs of hypokalemia (low potassium levels in the blood). In addition, the blood shows metabolic acidosis (too high acidity of the blood (< pH 7:35).
Eye examination
Presence of cystine crystals in the cornea and conjunctiva (eye conjunctiva)
on slit lamp examination. This is the most obvious symptom of cystinosis.
Prenatal diagnosis
When a fetus is at risk for Abderhalden-Kaufmann-Lignac syndrome, the cystine level can be measured with a chorionic villus sampling or amniocentesis.
Urinalysis
The urine test shows that the patient suffers from aminoaciduria (presence of amino acids in the urine). Glucosuria is also evident from the results. Glucose is present in the urine. In addition, the doctor measures urine electrolytes to detect the reduction of bicarbonate and phosphaturia.
Therapy
Kidneys
Abderhalden-Kaufmann-Lignac syndrome is usually treated with the drug “Cysteamine” (brand name Cystagon). The administration of Cysteamine reduces intracellular cystine. When administered regularly, Cysteamine reduces the amount of cystine stored in lysosomes and ensures better kidney function and growth. Sometimes a kidney transplant is required if the kidneys fail partially or completely.
Eyes
Cysteamine eye drops remove cystine crystals in the cornea and conjunctiva so that photophobia is not manifested. The patient uses correct eye drop guidelines.
Blood
Patients with Abderhalden-Kaufmann-Lignac syndrome often receive potassium, vitamin D and phosphorus supplements as well as sodium citrate to treat blood acidosis.
Prognosis
Little is known about the prognosis of this syndrome. However, the patient must be regularly monitored by the various medical specialties so that, for example, the proper functioning of the kidneys is guaranteed.
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