Renal involvement in Refsum's disease

Pabico, Rufino C.; Gruebel, Barbara J.; McKenna, Barbara A.; Griggs, Robert C.; Hollander, Joshua; Nusbacher, Jacob; Panner, Bernard J.

doi:10.1016/0002-9343(81)90889-5

Cited by 20 publications

(5 citation statements)

References 18 publications

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“…Plasma exchange was first used in 1972 (33) but it is difficult to know how helpful treatment was as only 400 ml of blood was exchanged at a time. In other reports of patients with HAP (34,35,36), plasma exchange improved the clinical condition. Taken at face value, plasma exchange in the management of HAP appears to be beneficial (37).…”

Section: Plasma Exchangementioning

confidence: 60%

Heredopathia atactica polyneuritiformis: Refsum's disease

Gibberd

Billimoria

Goldman

et al. 2009

Acta Neurologica Scandinavica

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– Seven patients with Heredopathia Atactica Polyneuritiformis are described. There were 3 groups of clinical characteristics: first, congenital abnormalities such as skeletal deformities, unrelated to phytanic acid levels; second, signs and symptoms such as retinitis pigmentosa which come on slowly and are not directly related to the plasma phytanic acid level; third, lesions such as the neuropathy, rash and cardiac arrhythmias which can change quickly and are linked to the plasma phytanic acid level. Exacerbations of the signs in the third group are precipitated by a low calorie intake and mobilisation of phytanic acid from the adipose tissue. Poor vision is due not only to retinitis but also to small pupils which fail to dilate in the dark. The use of plasma exchange is discussed. With good dietary supervision it is possible to produce a considerable clinical recovery for the neuropathy.

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Section: Plasma Exchangementioning

confidence: 60%

Heredopathia atactica polyneuritiformis: Refsum's disease

Gibberd

Billimoria

Goldman

et al. 2009

Acta Neurologica Scandinavica

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“…In adults, the differential diagnosis of the tubular inclusions seen in UMOD storage disease includes lightchain Fanconi syndrome 27 and adult Refsum's disease. 28,29 In contrast to UMOD inclusions, the needle-or rod-shaped intracytoplasmic crystals in light-chain Fanconi syndrome accumulate in proximal tubules and characteristically stain for k-light chain. Patients typically have evidence of plasma cell dyscrasia and partial or complete Fanconi syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…On electron microscopy, intracellular lipid vacuoles and inclusions composed of quadrangular microtubules are seen in the distal convoluted tubules and loop of Henle. 28,29 The diagnosis of UMOD storage disease should be suspected on clinical grounds and confirmed by genetic testing without the need for renal biopsy. The current case underscores the importance of careful family history taking.…”

Section: Discussionmentioning

confidence: 99%

Uromodulin storage disease

Nasr

Lucia

Galgano

et al. 2008

Kidney International

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A 26-year-old female was found to have renal insufficiency on routine laboratory studies. She denied gross hematuria, edema, or oliguria. She had no history of diabetes, hypertension, arthritis, urinary tract infections, or nephrolithiasis. Her only medication was an oral contraceptive (Lo/Ovral). On physical examination, the patient had blood pressure of 120/66 mm Hg, heart rate of 70 per min, and weight of 146 lb. Cardiovascular, pulmonary, and abdominal examinations were unremarkable. There was no evidence of rash or edema. Laboratory examination showed a total leukocyte count of 7000/mm 3 (normal range 4000-9000/mm 3 ), hematocrit 39.8% (normal range 33.0-45.0%), platelet count 242 Â 10 9 /l (normal range 140-360 Â 10 9 /l), 24-h urine protein 70 mg, serum albumin 4.3 g per 100 ml (43 g/L) (normal range 3.2-5.2 g per 100 ml (32-52 g/L)), serum creatinine 1.6 mg per 100 ml (141 mmol/L), creatinine clearance 71 ml/min, and serum cholesterol 222 mg per 100 ml (5.74 mmol/L). Serum electrolytes were normal including sodium, potassium, glucose, bicarbonate, and calcium. The patient had normal serum complements. The following serologies were negative: antinuclear antibody, antidouble-stranded DNA antibody, antineutrophil cytoplasmic antibody, hepatitis B surface antigen, and hepatitis C antibody. Urinalysis showed specific gravity 1.010, pH 5.0 and was negative for protein, blood, glucose, and nitrite. Microscopic examination of the urine revealed 0-5 white blood cells per high-power field, no red blood cells, and no hyaline or granular casts. Renal ultrasound showed normal-sized kidneys with normal echogenicity and no hydronephrosis, masses, or cysts. A renal biopsy was performed.

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“…Less than 1% is excreted in the urine. Thus phytanic acid accumulates in adipose tissue, myelin sheaths, kidneys, and liver where damage may result [22][23][24]. Exactly how accumulation of phytanic acid, or why acute elevations in plasma phytanic acid levels result in clinical disease is not fully understood.…”

Section: Clinical Characteristics Of Phytanic Acid Storage Diseasementioning

confidence: 99%

“…Ansomia, deafness and visual field defects were not significantly improved in any patients. Aminoaciduria and renal dysfunction may also improve with TPE [12,22]. Because phytanic acid is found as a component of plasma tryglycerides in the VLDL and LDL fraction [31], lipapheresis by cascade filtration may be used to remove phytanic acid from patients' plasma with efficiency approaching that of TPE [32,33].…”

Section: Therapeutic Apheresis and Management Of Phytanic Acid Storagmentioning

confidence: 99%

Phytanic acid storage disease (Refsum's disease): Clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management

Weinstein

1999

J. Clin. Apheresis

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Renal involvement in Refsum's disease

Cited by 20 publications

References 18 publications

Heredopathia atactica polyneuritiformis: Refsum's disease

Heredopathia atactica polyneuritiformis: Refsum's disease

Uromodulin storage disease

Phytanic acid storage disease (Refsum's disease): Clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management

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