UNASSIGNED: @entity8518 is a rare @entity74 and the most common cause of @entity4434 in young @entity1 . Renal biopsy is usually not necessary to establish the diagnosis, but when the @entity1 presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. We describe here renal biopsy findings in a @entity1 with @entity8518 . A 20-month-old male presented with failure to thrive, @entity2011 , @entity4683 and rickets. He initially showed evidence of a @entity8 , mild @entity177 and @entity3040 . His initial ophthalmologic exam did not demonstrate corneal crystals. His subsequent workup revealed @entity14104 , suggesting a partial proximal @entity8 . Concomitantly, a renal biopsy revealed prominent podocytes with an immature glomerular appearance and electron microscopy analysis showed numerous intracellular crystals within tubular epithelial cells. Subsequent laboratory and genetic testing confirmed a diagnosis of @entity54547 . This case highlights the variability in the clinical presentation of @entity8518 , resulting in an uncommon clinical picture of a @entity395 . Given that treatment is available to prolong renal function and minimize the extra-renal manifestations of this disorder, early diagnosis is essential. It is important to raise the index of suspicion of @entity8518 by recognizing its subtle morphological changes in young @entity1 , and that @entity3040 can be secondary to this disorder.

The Value Of Renal Biopsy In Diagnosing @entity54547 Associated With XXXX .

@entity1 :: ('9606', 'Species') :: ['children', 'patient', 'patients'] @entity2011 :: ('MESH:D011141', 'Disease') :: ['polyuria'] @entity8 :: ('MESH:D007674', 'Disease') :: ['tubulopathy', 'renal tubular acidosis'] @entity14104 :: ('MESH:D007015', 'Disease') :: ['phosphaturia'] @entity4683 :: ('MESH:D059606', 'Disease') :: ['polydipsia'] @entity54547 :: ('MESH:C565655', 'Disease') :: ['infantile nephropathic cystinosis'] @entity8518 :: ('MESH:D003554', 'Disease') :: ['cystinosis', 'Cystinosis'] @entity177 :: ('MESH:D051437', 'Disease') :: ['renal insufficiency'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal recessive disorder'] @entity3040 :: ('MESH:D018500', 'Disease') :: ['nephrogenic diabetes insipidus'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disease'] @entity4434 :: ('MESH:D005198', 'Disease') :: ['inherited renal Fanconi syndrome']
@entity3040 :: (MESH:D018500,Disease) :: ['Secondary Nephrogenic Diabetes Insipidus']
