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The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

Rasouly, Hila Milo; Balderes, Olivia; Marasa, Maddalena; Fernandez, Hilda; Lipton, Marissa; Lin, Fangming; Gharavi, Ali G; Sabatello, Maya
PURPOSE:The success of genomic medicine hinges on the implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, however referral is likely to be affected by genetic knowledge. METHODS:An online survey was administered to self-identified nephrologists working in the United States. Nephrologists' demographic characteristics, genetic education, confidence in clinical genetics, genetic knowledge, and referral rates of patients to genetic evaluation were collected. RESULTS:In total, 201 nephrologists completed the survey. All reported treating patients with genetic forms of kidney disease, and 37% had referred <5 patients to genetic evaluation. A third had limited basic genetic knowledge. Most nephrologists (85%) reported concerns regarding future health insurance eligibility as a barrier to referral to genetic testing. Most adult nephrologists reported insufficient genetic education during residency (65%) and fellowship training (52%). Lower rating of genetic education and lower knowledge in recognizing signs of genetic kidney diseases were significantly associated with lower number of patients referred to the genetic evaluation (P < .001). Most nephrologists reported that improving their genetic knowledge is important for them (>55%). CONCLUSIONS:There is a need to enhance nephrologists' genetic education to increase genetic testing use in nephrology.
PMID: 36789889
ISSN: 1530-0366
CID: 5599762

AKI in COVID-19-Associated Multisystem Inflammatory Syndrome in Children (MIS-C)

Lipton, Marissa; Mahajan, Ruchi; Kavanagh, Catherine; Shen, Carol; Batal, Ibrahim; Dogra, Samriti; Jain, Namrata G; Lin, Fangming; Uy, Natalie S
Background:Multisystem inflammatory syndrome in children (MIS-C) is a recently identified entity in association with COVID-19. AKI has been widely reported in patients with primary COVID-19 infection. However, there is a paucity of literature regarding renal injury in MIS-C. We aim to characterize AKI in MIS-C in this cohort identified at a major children's hospital in New York City during the COVID-19 pandemic. Methods:We conducted a retrospective cohort study of children 0-20 years old admitted to Morgan Stanley Children's Hospital (MSCH) between April 18th and September 23rd, 2020. Patients were included if they met criteria for MIS-C on the basis of CDC guidelines. All patients were evaluated for the presence of AKI, and AKI was staged according to KDIGO criteria. Results:=0.01) when compared with those without AKI. No differences in body mass index or sex were found. Conclusions:Although children with MIS-C may develop AKI, our study suggests that most experience mild disease, swift resolution, and promising outcome. Older age, increased inflammation, and left ventricular systolic dysfunction may be risk factors. Our study highlights the substantial differences in epidemiology and outcomes between AKI associated with pediatric MIS-C versus primary COVID-19 infection.
PMID: 35373052
ISSN: 2641-7650
CID: 5232532

Eculizumab treatment for renal failure in a pediatric patient with COVID-19 [Case Report]

Mahajan, Ruchi; Lipton, Marissa; Broglie, Larisa; Jain, Namrata Gargee; Uy, Natalie Somera
While there are increasing reports of acute kidney injury among hospitalized adults with COVID-19, there is still limited information on renal complications associated with COVID-19 in children. The cause of kidney involvement in COVID-19 is likely multifactorial, and appears to involve a complex process, including complement dysregulation and thrombotic microangiopathy. We present a pediatric case of COVID-19 and renal failure due to thombotic microangiopathy, successfully treated with eculizumab.
PMID: 32981025
ISSN: 1724-6059
CID: 4998542

Role of pediatric nephrologists in managing adults with AKI due to COVID-19 [Editorial]

Lipton, Marissa; Kavanagh, Catherine R; Mahajan, Ruchi; Jain, Namrata G; Uy, Natalie S; Dogra, Samriti; Lin, Fangming
PMID: 32588224
ISSN: 1432-198x
CID: 4998532

Relationship between angiogenesis inhibitors and pediatric hypertension: A case-series [Meeting Abstract]

Lipton, M; Pehrson, L J; Vento, S M; Trachtman, H; Malaga-Dieguez, L
Background: Angiogenesis inhibitors have an emerging role in the treatment of pediatric cancers. CNS tumors have high concentrations of pro-angiogenic factors and neo-vascularization. Much of what is known about angiogenesis inhibitors comes from adult studies, where they have been more widely used. Hypertension is a common side effect of this new drug class in adults. Limited information is available about the safety of these medications in children.
Method(s): A single center, retrospective chart review was conducted. Twenty-eight patients under 25 years of age with CNS tumors, who were followed by the Division of Pediatric Hematology and Oncology at NYU Medical Center, were identified who had received angiogenesis inhibitors developed hypertension. Chart review was conducted in 12 cases. The other cases met exclusion criteria or access to full EMR was unavailable.
Result(s): Seven (56%) patients developed hypertension within 9 months of initiation of the drugs, with most occurring in the first 3 months. Four were treated with bevacizumab, 2 axitinib, and 1 pazopanib. While one patient's symptoms resolved, the remaining 6 children required treatment with anti-hypertensive agents. Only two patients were referred to pediatric nephrology and were treated with amlodipine. The remaining patients were all given diuretics by the oncology team, with 3 requiring use of a second antihypertensive agent (ACE inhibitors).
Conclusion(s): Our findings are consistent with the adult literature and indicate that secondary hypertension is a frequent complication of angiogenesis inhibitor therapy. Poorly controlled hypertension in children has the potential to track into adulthood and is a major risk factor for cardiovascular morbidity and mortality. Identification and treatment of pediatric hypertension is an important health focus for pediatric oncology patients. Timely referral to a pediatric nephrologist should be coinsidered for treatment of angiogenesis inhibitor-associated hypertension
ISSN: 1533-3450
CID: 4750262