Nivedita Patni, M.D. Associate Professor School Medical School Department Pediatrics You have reached the Academic Profile. For more information on the doctor and patient care, please visit the clinical profile. Biography Dr. Nivedita Patni received her medical degree from All-India Institute of Medical Sciences in India, and completed her pediatric residency at Miami Children’s Hospital before coming to UT Southwestern Medical Center for Pediatric Endocrinology fellowship. Her academic and clinical interests are pediatric endocrine and lipid disorders; including genetic dyslipidemias like type 1 hyperlipoproteinemia (T1HLP) and rare lipodystrophy and progeria syndromes; and is actively seeing all pediatric lipid disorders at Children’s Dallas. She has published about prevalence, clinical features and various etiologies of extreme hypertriglyceridemia in children; and is working on determining genetic basis of lipid disorders in children and investigating the genotype-phenotype relationships in these patients. Patients with T1HLP are a challenge to treat, and at this time, there is no specific therapy for these patients. She recently completed a pilot randomized, open label, cross over clinical trial of gastric and pancreatic lipase inhibitor, orlistat in these patients and showed promising results. She has described a novel syndrome of generalized lipodystrophy associated with pilocytic astrocytoma and novel finding of juvenile-onset generalized lipodystrophy in two patients with a new mutation in LMNA gene. She has also studied and published detailed clinical and metabolic parameters of children with FPLD-2 causing LMNA mutations and continues her research work at the Center for Human Nutrition at UT Southwestern Medical Center to understand natural history and physiology of rare lipodystrophy syndromes. Education Medical School All India Institute of Medical Sciences, India (2008) Residency Miami Children's Hospital (2013), Pediatrics Fellowship UT Southwestern/Children's Medical Center (2016), Pediatric Endocrinology Research Interest Genetic Dyslipidemia Lipodystrophy Syndromes Progeria Syndromes Type 1 Hyperlipoproteinemia Publications Featured Publications Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A Am. J. Hum. Genet. 2018 Dec 103 6 968-975 Should children with chronic diarrhea be referred to a lipid clinic? Wilson DP, Patni N J Clin Lipidol 2018 Jun Orlistat Therapy for Children with Type 1 Hyperlipoproteinemia: A Randomized Clinical Trial. Patni N, Quittner C, Garg A J. Clin. Endocrinol. Metab. 2018 Apr The prevalence and etiology of extreme hypertriglyceridemia in children: Data from a tertiary children's hospital. Patni N, Li X, Adams-Huet B, Garg A J Clin Lipidol 2018 Jan A Novel Generalized Lipodystrophy-associated Progeroid Syndrome due to recurrent heterozygous LMNA p.T10I Mutation. Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis J, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A J. Clin. Endocrinol. Metab. 2017 Dec Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C. Patni N, Xing C, Agarwal AK, Garg A Am. J. Med. Genet. A 2017 Jul The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother K, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T J. Clin. Endocrinol. Metab. 2016 Oct jc20162466 A 16-Year-Old Girl with Polyuria, Polydipsia, and a New-Onset Rash Around Her Elbows and Knees. Patni N, Burton A Pediatr Ann 2016 Sep 45 9 e317-8 Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1. Patni N, Brothers J, Xing C, Garg A J Clin Lipidol 2016 Jul-Aug 10 4 1035-1039.e2 A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma. Patni N, Alves C, von Schnurbein J, Wabitsch M, Tannin G, Rakheja D, Garg A J. Clin. Endocrinol. Metab. 2015 Oct 100 10 3603-6 Results 1-10 of 16 1 2 Next Last Books Featured Books Cerebrotendinous Xanthomatosis. In Diagnosis and Treatment of Lipid Disorders in Children and Adolescents in www.endotext.org. Patni N, Wilson D. (2016). South Dartmouth: MDText.com, Inc. Genetics and Dyslipidemia. In Diagnosis and Treatment of Lipid Disorders in Children and Adolescents in www.endotext.org. Patni N, Ahmad Z, Wilson D. (2016). South Dartmouth: MDText.com, Inc. Honors & Awards Pediatric Endocrine Society Travel Award for Annual Meeting (2016) Endocrine Society Early Career Forum Travel Award for Annual Meeting (2015) Travel Award for Lipodystrophy meeting: Leptin and Beyond (2014) Pediatric Endocrine Society Travel Award for Lipodystrophy Diagnosis & Treatment Consensus Statement meeting2015 Professional Associations/Affiliations Lipid Special Interest Group, Pediatric Endocrine Society (2018) National Lipid Association (2017) Pediatric Endocrinologists of Texas, Oklahoma, Louisiana, and Arkansas (2013) The Endocrine Society (2013) The Pediatric Endocrine Society (2014)
