| Proteinuria Case 3 | Return | |||||
| At his 3 year physical exam, proteinuria, hematuria, glucosuria, mild metabolic acidosis, significant tubular proteinuria, hypouricemia, mixed proximal and dRTA with mild impairment of renal filter function and mild hypertension were identified. There is a positive FH of renal Fanconi syndrome and kidney stones. He has had poor weight gain.
Case 3 was initially found to have blood, protein, and glucose in his urine at his 3 year physical by his PCP. His medical history and ROS was suggestive of slow weight gain only. His father has a history of proteinuria and kidney stones and several members of his family have Fanconi syndrome and glycosuria. He has evidence of a mixture of proximal and distal renal tubular dysfunctions. His renal filter function is mildly impaired. We suspect that he has a hereditary nephropathy. He has been evaluated by a Genetic Center. Although we have been unable to identify a specific diagnosis for his findings, it would appear from the family history that there is a familial renal condition on the paternal side characterized by tubular dysfunction, hematuria, and stone formation. Transmission from father to son, an autosomal dominant inheritance pattern with variable expression and/or non-penetrance in Case 3's paternal grandmother would provide the best explanation for this pedigree. DOB 8/15/99 BP 98/66 Age 5 90%tile 105/63 95%tile 109/67 Ht 105.7 cm Wt 15.4 kg Pulse 55 bmi 13.6 Medication: Polycitra K 14 ml po tid (2 mEq/ml K citrate) Carnitor 3 ml po bid Nutraphos 25 ml tid (1 packet in 75 ml h20, div tid) (250 mg P daily) Objective General: petite, thin, cauc. Male, nad ENMT: clear Neck: supple Chest: wnl Resp: wnl CV: wnl ABD: wnl GU/Pelvic: deferred Lymph: wnl Musc/Skel: MM mass has improved Skin: wnl, improved sq fat Neuro: intact; some tactile defensiveness Psych: cooperative urine +protein, neg blood, +25 gluc Assessment Fanconi Syndrome [aminoaciduria, proteinuria, acidosis, phosphaturia, uricosuria, calciuria) Failure to Thrive Chronic Kidney Disease (74 ml/min/1.73 M2) stage 2 (kidney damage with mildly decreased function 60-89) |
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