RESUMEN
Mutations in the pancreatic ATP sensitive K(+) channel proteins [sulfonyluea receptor 1 (SUR1) and inward rectifier K(+) channel Kir6.2 (Kir6.2), encoded by ATP-binding cassette transporter subfamily C member 8 (ABCC8) and potassium channel J11 (KCNJ11), respectively], are the most common cause of neonatal diabetes. We describe the clinical presentation and molecular characterization of Asian Indian children with neonatal diabetes mellitus and monogenic syndromes of diabetes. We sequenced KCNJ11, ABCC8 and insulin (INS) genes in 33 unrelated Indian probands with onset of diabetes below one year of age. A total of 12 mutations were identified which included ABCC8 mutations in seven, KCNJ11 mutations in three and INS mutations in two children. The Asp212Tyr mutation in ABCC8 was novel. We also detected two novel mutations (Val67Met and Leu19Arg) in children with syndromic forms of diabetes like Berardinelli Seip syndrome [1-acyl-sn-glycerol-3-phosphate acyltransferase beta (AGPAT2)] and Fanconi Bickel syndrome [solute carrier family 2A2 (SLC2A2)]. Children carrying the KCNJ11 (Cys42Arg, Arg201Cys) and ABCC8 (Val86Ala, Asp212Tyr) mutations have been successfully switched over from insulin therapy to oral sulfonylurea. Our study is the first large genetic screening study of neonatal diabetes in India.
Asunto(s)
Diabetes Mellitus/genética , Enfermedades del Recién Nacido/genética , Transportadoras de Casetes de Unión a ATP/genética , Edad de Inicio , Niño , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/tratamiento farmacológico , Femenino , Genotipo , Humanos , Hipoglucemiantes/uso terapéutico , India , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/tratamiento farmacológico , Masculino , Mutación , Linaje , Canales de Potasio de Rectificación Interna/genética , Receptores de Droga/genética , Compuestos de Sulfonilurea/uso terapéutico , Receptores de SulfonilureasRESUMEN
A case of antiepileptic-induced vitamin D deficiency, who presented with hypocalcemia, hyperphosphatemia with increased tubular reabsorption of phosphate mimicking pseudohypoparathyroidism type 2, is reported. He showed remarkable improvement with calcium and vitamin D treatment with normalisation of serum calcium and phosphate with reestablishment of phosphaturic response.
Asunto(s)
Seudohipoparatiroidismo/diagnóstico , Deficiencia de Vitamina D/diagnóstico , Adulto , Anticonvulsivantes/efectos adversos , Diagnóstico Diferencial , Humanos , Masculino , Deficiencia de Vitamina D/inducido químicamenteRESUMEN
NEED AND PURPOSE OF REVIEW: Subclinical hypothyroidism is a biochemical diagnosis characterized by raised thyroid stimulating hormone and normal free T4, without clinical features of hypothyroidism. This review analyzes the current evidence to arrive at a consensus and algorithm to manage this condition. METHODS: We searched Pubmed, Cochrane and Embase for articles published between 1990 to 2014, and identified 13 relevant articles dealing with pediatric subclinical hypothyroidism which were suitable to include in our review. CONCLUSIONS: Subclinical hypothyroidism is often a benign problem which requires expectant management with periodic monitoring of thyroid function tests and natural progression to overt hypothyroidism occur lot less frequently than expected. There is a paucity of robust randomized intervention studies, especially studies focusing on clinical outcomes. Thyroid replacement therapy is not justified in children with subclinical hypothyroidism when Thyroid stimulating hormone is <10 mIU/L. The main risk factors for progression to overt hypothyroidism are female sex, goiter, family history of thyroid disorder, strongly positive thyroid peroxidase antibodies and symptoms suggesting hypothyroidism. An algorithm for managing this condition is suggested.