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Diffuse mesangial sclerosis: a unique type of congenital and infantile nephrotic syndrome
1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Insights
This study presents four Turkish infants with diffuse mesangial sclerosis (DMS), suggesting autosomal recessive inheritance. Early onset nephrotic syndrome led to renal failure and death, highlighting the heterogeneous nature of DMS.
Area of Science:
- Pediatric Nephrology
- Genetics
- Pathology
Background:
- Diffuse mesangial sclerosis (DMS) is a rare kidney disease.
- Understanding its genetic basis and clinical presentation is crucial for diagnosis and management.
Observation:
- Four Turkish infants with isolated DMS were studied.
- Consanguineous marriages and affected siblings suggested autosomal recessive inheritance.
- Nephrotic syndrome onset ranged from 3 to 17 months.
Findings:
- All patients presented with nephrotic syndrome and progressed to renal failure.
- Autopsy confirmed DMS; non-specific findings were noted on microscopy.
- Infections contributed to shorter survival in some cases.
Implications:
- The findings support the heterogeneous clinical presentation of DMS.
- Early diagnosis and genetic counseling are important for families with suspected inherited kidney diseases.
- Further research into the genetic factors influencing DMS is warranted.
Abstract:
Clinical and pathological findings in four Turkish infants with isolated diffuse mesangial sclerosis (DMS) are presented. All the patients were offsprings of consanguineous marriages and two had similarly affected sibs indicating an autosomal recessive inheritance. The onset of the nephrotic syndrome was at 7, 17, 11 and 3 months of age. They all died in a state of renal failure complicated by infections at the ages of 11, 33, 13 and 5 months. DMS was diagnosed at postmortem examination in all. Fluorescence-microscopical studies in all and an electron-microscopical study in one revealed nonspecific findings. The shorter survival in three of the cases was thought to be due to intervening infections. The variation of the clinical features along with the fluorescence and electron-microscopical findings are consistent with the previously mentioned heterogeneous aspect of DMS.