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"Child`s Health" 7 (50) 2013

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Urgent issues about Fanconi syndrome: review of literature and description of case report

Authors: Lembryk I.S - Ivano-Frankivsk natinal medical university; Yakymiv S.I., Lesyuk O.V. - Ivano-Frankivsk regional''s children''s hospital, Ivano-Frankivsk Ukraine

Categories: Pediatrics/Neonatology

Sections: Clinical researches

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Introduction. Fanconi syndrome is a group of diseases which affects joints, skeleton and kidneys. It is inherited in autosomal recessive pattern.

This rickets-like syndrome at first was associated with the Swiss pediatrician Guido Fanconi. Then it was described in parts and under various names by several investigators who preceded him. During the years that followed, a number of clinical reports multiplied. Soon syndrome's association with various pathological conditions characterized by injury of the proximal segment of the renal tubule became proved. Till nowadays, the mechanism underlying abnormalities of metabolits remains unknown.

Cystinosis is one of the most common causes of Fanconi syndrome in children. The disease is caused by the accumulation of cystine in renal tubule cells.

Numerous mechanisms can result in diminished reabsorption of solutes by the proximal tubule. The 3 main categories in which they can be classified are: alterations in the function of the carriers that transport substances across the luminal membrane, disturbances in cellular energy metabolism, and changes in permeability characteristics of the tubular membranes.

The objectives of investigation were to study features of Fanconi syndrome in children’s age.

Materials and methods. In this paper modern outlook of etiology, pathogenesis, clinical features, diagnostics and treatment of Fanconi disease in children are represented. One clinical report of Fanconi syndrome in 16 years old male is given.

Results of investigation and its discussion. Data of scientific literature devoted to this problem is for the last 5-10 years. Due to literature review this syndrome is predisposed to various causes, some inherited and some acquired. The incidence is rare. In mostly cases morbidity has the background of main metabolic abnormalities in this syndrom. Most of them, such as acidosis, calciuria, and phosphaturia, affect bone growth and thus, the height of the patient. Some forms of Fanconi syndrome, such as cystinosis, lead to renal failure. The clinical features of the disease include polyuria, polydipsia, signs of dehydration, bone deformities, and impaired growth. The age at onset varies with the etiology. A few of the inherited forms of Fanconi syndrome, such as Lowe syndrome, vitamin D–dependent rickets, and the infantile form of cystinosis, become evident during the first year of life. Other forms, such as the late-onset forms of cystinosis, Wilson disease, galactosemia, and glycogen-storage disease, appear clinically at a later age, usually during childhood. The acquired forms may appear at any age, mostly because of exposure to noxious agents. The significant sign of physical examination in patients with Fanconi syndrome is failure to thrive. Laboratory findings include: proteinuria, hypokalemia, hypophosphatemia, and hyperchloremic metabolic acidosis. The diagnosis is confirmed based on tests that document the excessive loss of substances in the urine (eg, amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations. Imaging studies do not play an important role in the diagnosis or follow-up of patients with Fanconi syndrome. For some patients biopsy of the kidneys is needed but it does not have specific morphological features. Treatment of the Fanconi syndrome includes replacement of fluids and electrolytes which are lost with urine. Application of diuretics because of volume expansion is indicated also. But sometimes only administration of vitamin D is helpful like it was shown in our clinical report. Our patient also received metabolic medicines and massage, physical therapy.

Conclusion. Fanconi syndrome is heridatory-acquired enzyme syndrome which has different clinical features, depending on age and form of pathology. Knowledge of peculiarities of Fanconi syndrome makes a great importance for practitioner because of cooperation with other specialists, performing of optimal therapeutic tactic and prevention.


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