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BACKGROUND: Papillorenal syndrome is an autosomal dominant disorder associated with mutations in the gene PAX2 and often presents with characteristic and specific optic disc findings, frequently with renal dysplasia. In at least half of cases, an identifiable mutation in the PAX2 gene can be detected. We report the ocular findings in a second case of papillorenal syndrome with the c.350 G > C (p.Arg117Pro) mutation detected within the PAX2 gene. METHODS: A case report of papillorenal syndrome due to PAX2 mutation. Complete ophthalmologic examination was performed as well as color fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Genetic testing was performed using a next-generation sequencing with CNV calling (NGS-CNV) panel test containing 55 genes associated with nephrotic syndrome or focal segmental glomerulosclerosis. RESULTS: An 11-year-old boy who presented with hypertension and proteinuria was found to have stage IV chronic kidney disease. Presenting visual acuity was 20/25 in the right eye and 20/20 in the left eye. The fundus exam showed bilateral centrally excavated optic discs with absent central retinal vessels and a compensatory multiplicity of cilioretinal vessels, characteristic and specific for papillorenal syndrome. OCT showed outer retinal atrophy and macular schisis. Genetic testing identified the likely pathogenic c.350 G > C (p.Arg117Pro) mutation in PAX2. CONCLUSIONS: We report the first description, to our knowledge, of the clinical presentation, ocular and systemic findings, and ophthalmic imaging in an individual with papillorenal syndrome associated with the PAX2 c.350 G > C (p.Arg117Pro) mutation. Our case adds to the current understanding of papillorenal syndrome and demonstrates that this condition is associated with a pathognomonic optic disc appearance and significant renal disease.

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Glucocorticoids are typically prescribed for the treatment of idiopathic nephrotic syndrome of childhood. In selected patients with refractory focal segmental glomuerulosclerosis (FSGS), adrenocorticotropin (ACTH) can be used to induce remission and decrease the progression of the disease. We report a 6 8/12-year-old girl with recurrent proteinuria, resistant to standard immunotherapy. She underwent related renal transplant but again developed proteinuria and was started on ACTH. She subsequently developed peripheral precocious puberty (PPP), presumably from peripheral aromatization of adrenal androgens. She was started on an aromatase inhibitor, and her ACTH dose was slowly decreased. She then developed central precocious puberty (CPP). We hypothesize that treatment of her peripheral precocious puberty with an aromatase inhibitor may have triggered central precocious puberty.

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BACKGROUND: Neonates with serum creatinine (SCr) rise ≥0.3 mg/dL and/or ≥50% SCr rise are more likely to die, even when controlling for confounders. These thresholds have not been tested in newborns. We hypothesized that different gestational age (GA) groups require different SCr thresholds. METHODS: Neonates in Assessment of Worldwide Acute Kidney Epidemiology in Neonates (AWAKEN) with ≥1 SCr on postnatal days 1-2 and ≥1 SCr on postnatal days 3-8 were assessed. We compared the mortality predictability of SCr absolute (≥0.3 mg/dL) vs percent (≥50%) rise. Next, we determine usefulness of combining absolute with percent rise. Finally, we determined the optimal absolute, percent, and maximum SCr thresholds that provide the highest mortality area under curve (AUC) and specificity for different GA groups. RESULTS: The ≥0.3 mg/dL rise outperformed ≥50% SCr rise. Addition of percent rise did not improve mortality predictability. The optimal SCr thresholds to predict AUC and specificity were ≥0.3 and ≥0.6 mg/dL for ≤29 weeks GA, and ≥0.1 and ≥0.3 mg/dL for >29 week GA. The maximum SCr value provides great specificity. CONCLUSION: Unique SCr rise cutoffs for different GA improves outcome prediction. Percent SCr rise does not add value to the neonatal AKI definition.

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A white girl presented at 8 months of age with thrombotic microangiopathy, followed by recurrent episodes of renal dysfunction, hemolysis, and thrombocytopenia, compatible with atypical hemolytic uremic syndrome. The episodes of the syndrome were treated by a combination of infusions of fresh frozen plasma, plasmapheresis, and continuous venovenous hemodialysis. Interval resolution occurred between episodes. At 2 years of age, prophylactic infusions of fresh frozen plasma were started between relapses, but this proved to be poorly protective; however, introduction of prophylactic intravenous gamma globulin at age 3.5 years resulted in prolonged remission (42 months). Serum levels of the third and fourth components of complement, total hemolytic complement, and complement factor H were normal. Results of the third component functional assay were low before and normalized after the start of immunoglobulin G prophylaxis. A missense mutation of complement factor H was identified. At 6 years of age, the patient underwent bilateral native nephrectomy and started long-term peritoneal dialysis, followed by a combined liver-kidney transplant at age 8 years. Four and a half years after transplant, she has excellent renal and liver graft function without recurrence of atypical hemolytic uremic syndrome.

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After a 19-year-old female experienced several weeks of unrelieved fevers, an abdominal CT revealed multiple low-attenuation renal lesions. As the differential included lymphoma, infections and infarcts, a core biopsy of the kidney was performed, which revealed changes consistent with Churg-Strauss syndrome.

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Fibromatosis is an uncommon breast lesion that can mimic breast carcinoma in its clinical presentation. We present a case in which excisional biopsy was necessary to establish a diagnosis of fibromatosis. Clinical, diagnostic imaging, and pathologic features are discussed. Magnetic resonance imaging (MRI) has emerged as a tool for further characterization of breast lesions and as a screening modality in high-risk patient populations. Ours marks the second case in which dynamic MRI has been correlated with histologically confirmed primary mammary fibromatosis. Unlike the previous report, MRI in this case mimics breast carcinoma in its morphologic and pharmacokinetic features of enhancement. Wide local excision with clear margins remains the treatment of choice. Current data on radiotherapy and pharmacologic therapy for mammary fibromatosis are reviewed.

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