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The study focused on a 27-year-old woman with hereditary coproporphyria, characterized by recurrent renal pain, dark urine, and hair loss, but no photosensitivity. Elevated urinary porphyrin metabolites and fecal studies confirmed the diagnosis, with decreased coproporphyrinogen oxidase activity at 35% of normal levels. Her mother and sisters were identified as heterozygous carriers of the condition, showing reduced enzyme activity up to 50%. A novel mutation was discovered in the coproporphyrinogen oxidase gene, involving a cytosine to thymine transversion at nucleotide position 854. Immunological studies indicated decreased enzyme protein concentrations in the patient and her family members.

This case report described a six-year-old boy with congenital generalized hypertrichosis terminalis, a rare condition characterized by excessive growth of pigmented terminal hair, gingival hyperplasia, and a coarse face. The boy, born to non-consanguineous parents, also had congenital hydronephrosis of the right kidney and a heterozygous deletion on chromosome 17q12. Despite normal intellectual development, he exhibited shyness and dependency on his mother. Laboratory tests showed normal results, and a right-sided nephrectomy was performed due to urinary infections. The report highlighted the need for regular follow-ups with endocrinologists and nephrologists due to potential risks of diabetes mellitus and renal function issues. Laser hair removal was initiated and proved effective. The study suggested a possible genetic link involving chromosome 17q but noted that a specific molecular abnormality had not been identified.