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F. Saricaoglu

Lowe syndrome

Lowe syndrome

Schlüsselwörter Lowe syndrome; ICD 10: E72.03; OCRL, oculo-cerebro-renal syndrome, oculo-cerebro-renal syndrome of Lowe, Lowe-Terrey-MacLachan syndrome
Keywords Lowe syndrome; ICD 10: E72.03; OCRL, oculo-cerebro-renal syndrome, oculo-cerebro-renal syndrome of Lowe, Lowe-Terrey-MacLachan syndrome
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Summary

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder (Xq25-q26), first described by Lowe, Terrey, and MacLachan in 1952. The estimated prevalence is 1 in 500,000 patients. It is caused by a defect of the enzyme phosphatidylinositol 4,5-biphosphate 5-phosphatase. This leads to accumulation of phosphatidylinositol 4,5-biphosphate in multiple subcellular compartments. Enzyme deficiency may impair membrane and endosomal trafficking, actin dynamics, cell adhesion, cell motility and cell polarization. Renal involvement of OCRL comprises tubular dysfunction characterized by proteinuria and the renal Fanconi syndrome, manifesting as renal tubular acidosis, loss of potassium, phosphate and aminoacids. The renal manifestations become apparent in the first months of life, kidney function declines progressively with end-stage renal disease mostly in the fourth decade. Bilateral cataracts are present at birth and are associated with glaucoma in approximately half of the affected males, often resulting in progressive visual loss. Global hypotonia and areflexia is also noted soon after birth, and patients exhibit mental retardation (median IQ 45), stereotypic behaviour and temper tantrums, and seizure disorder. Patients have typical faces characterized by large forehead, sunken eyes, large, poorly shaped ears, and sometimes retrognatism. These children may require anaesthesia for different operations such as ocular surgery, orthopaedic procedures, orchidopexy or gastrostomy. The main anaesthetic concerns in these patients are difficult airway, muscular weakness, electrolyte and acid base imbalance.

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