High Morbidity and Mortality in Children with Untreated Congenital Deficiency of Leptin or Its Receptor

Overview

Journal Cell Rep Med

Publisher Cell Press

Specialties Biology
General Medicine

Date 2023 Sep 2

PMID 37659411

Authors

Sadia Saeed

Roohia Khanam

Qasim M Janjua

Jaida Manzoor

Lijiao Ning

Sharoon Hanook

Mickael Canouil

Muhammad Ali

Hina Ayesha

Waqas I Khan

I Sadaf Farooqi

Giles S H Yeo

Stephen ORahilly

Amelie Bonnefond

Taeed A Butt

Muhammad Arslan

Philippe Froguel

Affiliations

Soon will be listed here.

Abstract

The long-term clinical outcomes of severe obesity due to leptin signaling deficiency are unknown. We carry out a retrospective cross-sectional investigation of a large cohort of children with leptin (LEP), LEP receptor (LEPR), or melanocortin 4 receptor (MC4R) deficiency (n = 145) to evaluate the progression of the disease. The affected individuals undergo physical, clinical, and metabolic evaluations. We report a very high mortality in children with LEP (26%) or LEPR deficiency (9%), mainly due to severe pulmonary and gastrointestinal infections. In addition, 40% of surviving children with LEP or LEPR deficiency experience life-threatening episodes of lung or gastrointestinal infections. Although precision drugs are currently available for LEP and LEPR deficiencies, as yet, they are not accessible in Pakistan. An appreciation of the severe impact of LEP or LEPR deficiency on morbidity and early mortality, educational attainment, and the attendant stigmatization should spur efforts to deliver the available life-saving drugs to these children as a matter of urgency.

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