A Case Report of Fanconi Anemia: A Literature Review and Dental Perspective of Rare Disease

Introduction: Fanconi Anaemia (FA) is a very rare genetic disease characterised by genetic alterations, which causes con- genital abnormalities in individuals. This clinical case report of Fanconi anaemia, will review classical signs of the disease in detail. The various aspects of this rare condition are examined, with an emphasis on oral manifestations and their impact on af- fected patients overall health. Since this group is more likely to acquire cancers, paediatric dentists must be aware of common oral symptoms and possibly malignant lesions in order to make an early diagnosis and provide thorough care and maintenance of oral health to those who are affected. Case Presentation: A four-year-old female patient was brought by her parents to the Department of Pediatric and Preventive Dentistry, Yenepoya Dental college, with a chief complaint of pain in the upper back tooth region. The child had already been diagnosed with FA. Conclusion: Patients with FA are more prone to get infections, so proper precautions should be taken to avoid any situation that might put them at risk of infection or bleeding. Patients should be motivated to have regular follow-ups and encourage them to maintain good periodontal health, to help prevent the incidence of caries and to monitor their overall oral wellbeing.

The various metabolic factors involved in stone recurrence: a prospective study

Background: Nephrolithiasis is the most common chronic kidney condition, is globally increasing in both sexes. Five main types of renal stones viz., calcium oxalate stones, calcium phosphate stones, uric acid stones, struvite stones and cystine stones. Purpose of the study is to evaluate various metabolic factors contributing to recurrent renal stone and determining appropriate medical treatment and diet modification to prevent recurrent renal stone disease.Methods: This study was carried out in P.G. Department of Surgery, S.R.N. Hospital associated with M.L.N. Medical College, Allahabad. A total of 120 cases of recurrent renal calculi in and outpatient between August 2017 and July 2019 were included in the study. All patients were stone free at the time of metabolic urine evaluation.Results: Most of the patients in the study were in the age 21 to 50 years. 80% were males and 20% were females. In 24-hour urine analysis most common metabolic abnormality seems to be hyperoxaluria (92.5%) followed by hypercalciuria (82.5%), high pH (67.5%), and least common seems to be hypocitraturia (15%), followed by hyperphosphaturia (20%), hypernatreturia (25%), and low level of potassium (25%).Conclusions: All patient of recurrent stone formation are advised increase fluid intake. In patient with hypercalciuria and hypocitraturia, dietary restriction of protein, oxalate and sodium, treatment includes thiazides supplemented with potassium citrate. In patient with hyperoxaluria dietary restriction of oxalate rich food and in hyperuricosuria dietary restriction of animal protein is advised.