However, cases of Dent disease occurring concomitantly with Bartter syndrome have been observed [10]

However, cases of Dent disease occurring concomitantly with Bartter syndrome have been observed [10]. [RTA], etc.) and also since it can present with variable phenotypes and has a great amount of allelic heterogeneity. In this case, it was diagnosed after 13 years from symptom onset. The patient was subjected to alternative forms of medicine, multiple working diagnoses and associated treatments at various hospitals which most likely contributed to a faster disease progression. In addition to the treatment of the disease, growth hormone (GH) therapy has proven to be beneficial but was not offered Seviteronel to this patient. In this case, we would also like to report some rare findings such as persistent hypercholesterolemia and steroid-resistant nephrotic syndrome (SRNS) biopsy pattern.?We decided to pursue this particular disease to highlight the importance of having a high clinical suspicion with a view to attain?a definitive diagnosis and instituting appropriate treatment as soon as possible. We also highlight the importance of keeping the patient informed about their disease, the possible therapeutic options and the importance of genetic counselling and patient education. strong class=”kwd-title” Keywords: x-linked, gh therapy, renal failure, lmwp, tubulopathy, hypophosphatemic rickets, dent disease Introduction Dent disease type 1 is an X-linked recessive renal tubular disease that classically manifests with low molecular weight proteinuria (LMWP), hypercalciuria leading to nephrocalcinosis/nephrolithiasis and one or more additional features like hypophosphatemia, hematuria, bony deformities, short stature and eventually, progression to chronic kidney disease (CKD).?The incidence of low molecular weight proteinuria in both Dent disease type 1 and type 2 populations is 100%. However, the incidence of other manifestations is not high, which is similar to previously reported data. Therefore, LMWP is a key clinical feature that should alert pediatricians to the possibility of Dent disease [1]. Loss-of-function mutations of chloride channel 5 (CLC-5), a chloride/proton exchanger on renal endosomes of proximal tubular cells, and to a lesser extent in cells of the medullary thick ascending limb and the intercalated cells of the collecting duct [2], encoded by the chloride voltage-gated channel 5 (CLCN5) gene located on chromosome Xp11.22, results in Dent disease (Online Mendelian Inheritance in Man [OMIM]:300009). Males younger than 10 years of age may manifest only low molecular weight proteinuria and/or Rabbit Polyclonal to Akt (phospho-Tyr326) hypercalciuria and they are usually asymptomatic. Patients with Dent disease type 2 (Lowe syndrome) harbour inactivating mutations of the?inositol polyphosphate-5-phosphatase?gene (OCRL) (Online Mendelian Inheritance in Man?[OMIM]:300355). They may additionally also have cataracts, mild intellectual disability and/or elevated muscle enzymes. Case presentation A 15-year and eight-month-old male presented to the clinic with burning micturition, fever and suprapubic pain for four days. This was his third episode of a lower urinary tract infection in six months. On evaluation, his blood pressure was 110/62 millimetres of mercury (mmHg) and a peripheral blood oxygen saturation of 99% on room air. Anthropometric measurements included a weight of 26.1kg ( 3rd centile Seviteronel for age), a height of 125.1cm ( 3rd centile), and a body mass index (BMI) of 15.9kg/m2?(10th to 25th centile). On assessing the parents’ height, the mother was 152.5cm while the father was 164.0cm. This gave a mid-parental height (MPH) value of 164.75cm, which was between the 15th Seviteronel to 50th centile. A sexual maturity rating (SMR) score as per the Tanner and Whitehouse classification system was Ph1, G2. Testicular volume was 3cc and 4cc on the right and left, respectively, with a stretched penile length (SPL) of 4.0cm. Other tell-tale signs of puberty such as growth spurt, acne vulgaris, behavioural changes, deepening of voice etc. were not present in this patient. Visual acuity was 6/6 in both eyes, with normal near and colour vision. Due to this peculiar clinical presentation, we were curious and wanted to know more about the patients history. Diagnostic tests ordered at this point were as follows: biochemical analysis was normal – sodium (134mEq/l), potassium (3.9mEq/l), chloride (99mEq/l), calcium (9.7mg/ dl), alkaline phosphatase (295 IU/l, normal 50-440) and acid-base balance (pH 7.420, bicarbonate 23.3mEq/l); serum total protein and albumin were 8.0g/dl?and 4.9g/dl, respectively; vitamin D levels were 27.6ng/ml (deficiency: 30ng/ml), while the.