case_images: PMC11667764_01
case_images: Clinicopathologic features of TFP. (A) Timeline of the clinical features for the proband and her sibling. Each had some typical features of TFP along with hematologic, renal, and respiratory involvement. (B) Pedigree illustrating that both siblings are affected due to compound heterozygous variants in HADHB (NM_000183.3). (C) Light micrograph of hematoxylin and eosin stained renal biopsy sections showing FSGS (left, arrow) and global glomerulosclerosis (right, arrow head). ACP, acylcarnitine profile; FSGS, focal segmental glomerulosclerosis; NBS, newborn screen.
case_images: JMD2-66-e12459-g002.jpg
case_images: PMC11667764_01_JMD2-66-e12459-g002.jpg
case_images: jmd212459-fig-0001
case_images: Subsequent renal biopsy revealed pathology consistent with focal segmental glomerulosclerosis (FSGS) (Figure 1C).