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Familial nephrotic sysndrome: Ultra-structural glomerular study of two siblings
Abstracts of The XIV Congress of the Italian Society of Electron Microscopy
8 c hil d r e n (7 males and 1 female, aged b e t w e e n 7 and 12 years) have been divided into three groups. All of them showed p o s i t i v e i m m u n o f l u o r e s c e n c e for Ig A. Grou n I: 4 c h i l d r e n with m a c r o s c o p i c r e c u r r e n t hematuria, no proteinuria. The LM showed minimal lesions in 3 patients, s e g m e n t a l - G N in i. Group 2: 2 c h i l d r e n with m i c r o s c o p i c p e r s i s t e n t h e m a t u r i a and p r o t e i n u r i a of 1-1.5 gr/die. The LM r e v e a l e d minimal lesions in 1 p a t i e n t and focal segmental GN in the other. Group 3: 2 children with m a c r o s c o p i c r e c u r r e n t h e m a t u r i a and p r o t e i n u r i a of 2-3 gr/die. At LM segmental GN was detected. In 5 patients the u l t r a s t r u c tural aspect was typical for Ig A nephropathy, i.e., increase of m e s a n g i a l cells and matrix, with diffuse electrondense deposits in m e s a n g i a l and maram e s a n g i a l area, and almost normal GBM. In 2 patients typical a b n o r m a l i t i e s in m e s a n g i a l area as well as s u b e n d o t h e l i a l e l e c t r o n - d e n s e deposits in GBM were found. The last p a t i e n t showed widespread and evident s u b e n d o t h e l i a l deposits in GBM, and normal mesangium. Many authors a g r e e in c o n s i d e r i n g p r o t e i n u r i a 2-3 gr/die and s c l e r o t i c lesions in more than 30% of glomeruli as adverse prognostic data in adult age. In our patients no c o r r e l a t i o n was d e t e c t e d among clinical and h i s t o l o g i c a l data and the ult r a s t r u c t u r a l observations. In 2 cases with r e l e v a n t nroteinuria, but normal renal function, segmental s c l e r o t i c lesions were present in more than 30% of glomeruli; w h i l e in 1 patient who at present, 3 years after renal biopsy, has slight chronic renal failure, only 7% of glomeruli showed segmental s c l e r o t i c lesions. One p a t i e n t with m a c r o s c o p i c r e c u r r e n t hematuria, Droteinuria 0.5 gr/die and minimal lesions at LM had very w i d e s p r e a d s u b e n d o t h e l i a l deposits, w h e r e a s no deposits were present in 2 subjects w i t h D r o t e i n u r i a 2-3 gr/die. We conclude that the p r o g n o s t i c value of u l t r a s t r u c t u r a l analysis in the case of Ig A n e p h r o p a t h y in p e d i a t r i c age is still questionable.
F A M I L I A L N E P H R O T I C SYNDROME: ULTRAS T R U C T U R A L G L O M E R U L A R STUDY OF TWO SIBLINGS A. Sessa, L. Torri Tarelli*, M. Meroni, F. Giordano, G. Ferrario, A. Volpi, M. U s b e r t i * * and F. P e c o r a r o * *
151
O s p e d a l e di V i m e r c a t e , S e r v i z i di Nefrologia e Anatomia Patologica; * I s t i t u t o di A n a t o m i a U m a n a N o r m a l e dell'Universita di M i l a n o ; * * C a t t e d r a di N e f r o l o g i a M e d i c a , 2a F a c o l t ~ , U n i v e r s i t a di N a p o l i
The renal biopsy shows d i f f e r e n t g l o m e r u l a r lesions in n e p h r o t i c syndrome (NS) of childhood. Morphological studies distinguish: i) m i c r o c y s t i c disease, with "congenital" NS o c c u r r i n g b e l o w the age 3 months; ii) minimal changes, with "infantile" NS o c c u r r i n g from 3-11 months or "juvenile" over 1 year; iii) g l o m e r u l o n e p h r i t i s , with "congenital" or "juvenile" NS. The familial NS of unknown e t i o l o g y and v i r t u a l l y c o n f i n e d to siblings accounts for 3% of juvenile NS with m o r n h o l o g i c a l lesions c o n s i s t e n t with minimal changes or m e s a n g i a l h y D e r c e l l ularity or focal g l o m e r u l o s c l e r o s i s . We p e r f o r m e d renal biopsies in two siblings, a male 5 years 11/12 years old and a female 2 years 9/12 old, affected with n e p h r o t i c syndrome diagnosed at the age of 18 and 29 months, respectively. Light m i c r o s c o p y showed no glomerular lesions and i m m u n o f l u o r e s c e n t microscopy showed no deposits of immunog l o b u l i n or complement. By e l e c t r o n m i c r o s c o p y we i d e n t i f i e d the features of m i n o r g l o m e r u l a r changes: g l o m e r u l a r capillary walls showed focal and segmental t h i c k e n i n g because of s u b e n d o t h e l i a l deposits of basalm e m b r a n e - l i k e m a t e r i a l and the podocytes showed h y p e r t r o p h y and e f f a c e m e n t of foot processes. There were a few m e s a n ~ i a l e l e c t r o n - d e n s e deposits, no p a r i e t a l deposits and no e v i d e n c e of g l o m e r u l a r cells n r o l i f e r a t i o n . These u l t r a s t r u c t u r a l g l o m e r u l a r findings may justify the p e r s i s t e n t p r o t e i n u r i a and m i c r o h e m a t u r i a in the siblings and perhaps predict the development of focal g l o m e r u l a r sclerosis.
C O E X I S T E N C E OF M I C R O S O M A L AND L I V E R CELL P L A S M A M E M B R A N E R E A C T I V I T Y F O R LKM (LIVER-KIDNEY MICROSOMAL) A N T I B O D Y P. Preda, M. Lenzi*, S. Melagrani, F. B. Bianchi* and G. Biagini I s t i t u t o di M i c r o s c o p i a Elettronica C l i n i c a ; * I s t i t u t o di P a t o l o g i a M e d i c a I; U n i v e r s i t a di B o l o g n a
Liver-Kidney
Microsomal
(LKM)
anti-
8 c hil d r e n (7 males and 1 female, aged b e t w e e n 7 and 12 years) have been divided into three groups. All of them showed p o s i t i v e i m m u n o f l u o r e s c e n c e for Ig A. Grou n I: 4 c h i l d r e n with m a c r o s c o p i c r e c u r r e n t hematuria, no proteinuria. The LM showed minimal lesions in 3 patients, s e g m e n t a l - G N in i. Group 2: 2 c h i l d r e n with m i c r o s c o p i c p e r s i s t e n t h e m a t u r i a and p r o t e i n u r i a of 1-1.5 gr/die. The LM r e v e a l e d minimal lesions in 1 p a t i e n t and focal segmental GN in the other. Group 3: 2 children with m a c r o s c o p i c r e c u r r e n t h e m a t u r i a and p r o t e i n u r i a of 2-3 gr/die. At LM segmental GN was detected. In 5 patients the u l t r a s t r u c tural aspect was typical for Ig A nephropathy, i.e., increase of m e s a n g i a l cells and matrix, with diffuse electrondense deposits in m e s a n g i a l and maram e s a n g i a l area, and almost normal GBM. In 2 patients typical a b n o r m a l i t i e s in m e s a n g i a l area as well as s u b e n d o t h e l i a l e l e c t r o n - d e n s e deposits in GBM were found. The last p a t i e n t showed widespread and evident s u b e n d o t h e l i a l deposits in GBM, and normal mesangium. Many authors a g r e e in c o n s i d e r i n g p r o t e i n u r i a 2-3 gr/die and s c l e r o t i c lesions in more than 30% of glomeruli as adverse prognostic data in adult age. In our patients no c o r r e l a t i o n was d e t e c t e d among clinical and h i s t o l o g i c a l data and the ult r a s t r u c t u r a l observations. In 2 cases with r e l e v a n t nroteinuria, but normal renal function, segmental s c l e r o t i c lesions were present in more than 30% of glomeruli; w h i l e in 1 patient who at present, 3 years after renal biopsy, has slight chronic renal failure, only 7% of glomeruli showed segmental s c l e r o t i c lesions. One p a t i e n t with m a c r o s c o p i c r e c u r r e n t hematuria, Droteinuria 0.5 gr/die and minimal lesions at LM had very w i d e s p r e a d s u b e n d o t h e l i a l deposits, w h e r e a s no deposits were present in 2 subjects w i t h D r o t e i n u r i a 2-3 gr/die. We conclude that the p r o g n o s t i c value of u l t r a s t r u c t u r a l analysis in the case of Ig A n e p h r o p a t h y in p e d i a t r i c age is still questionable.
F A M I L I A L N E P H R O T I C SYNDROME: ULTRAS T R U C T U R A L G L O M E R U L A R STUDY OF TWO SIBLINGS A. Sessa, L. Torri Tarelli*, M. Meroni, F. Giordano, G. Ferrario, A. Volpi, M. U s b e r t i * * and F. P e c o r a r o * *
151
O s p e d a l e di V i m e r c a t e , S e r v i z i di Nefrologia e Anatomia Patologica; * I s t i t u t o di A n a t o m i a U m a n a N o r m a l e dell'Universita di M i l a n o ; * * C a t t e d r a di N e f r o l o g i a M e d i c a , 2a F a c o l t ~ , U n i v e r s i t a di N a p o l i
The renal biopsy shows d i f f e r e n t g l o m e r u l a r lesions in n e p h r o t i c syndrome (NS) of childhood. Morphological studies distinguish: i) m i c r o c y s t i c disease, with "congenital" NS o c c u r r i n g b e l o w the age 3 months; ii) minimal changes, with "infantile" NS o c c u r r i n g from 3-11 months or "juvenile" over 1 year; iii) g l o m e r u l o n e p h r i t i s , with "congenital" or "juvenile" NS. The familial NS of unknown e t i o l o g y and v i r t u a l l y c o n f i n e d to siblings accounts for 3% of juvenile NS with m o r n h o l o g i c a l lesions c o n s i s t e n t with minimal changes or m e s a n g i a l h y D e r c e l l ularity or focal g l o m e r u l o s c l e r o s i s . We p e r f o r m e d renal biopsies in two siblings, a male 5 years 11/12 years old and a female 2 years 9/12 old, affected with n e p h r o t i c syndrome diagnosed at the age of 18 and 29 months, respectively. Light m i c r o s c o p y showed no glomerular lesions and i m m u n o f l u o r e s c e n t microscopy showed no deposits of immunog l o b u l i n or complement. By e l e c t r o n m i c r o s c o p y we i d e n t i f i e d the features of m i n o r g l o m e r u l a r changes: g l o m e r u l a r capillary walls showed focal and segmental t h i c k e n i n g because of s u b e n d o t h e l i a l deposits of basalm e m b r a n e - l i k e m a t e r i a l and the podocytes showed h y p e r t r o p h y and e f f a c e m e n t of foot processes. There were a few m e s a n ~ i a l e l e c t r o n - d e n s e deposits, no p a r i e t a l deposits and no e v i d e n c e of g l o m e r u l a r cells n r o l i f e r a t i o n . These u l t r a s t r u c t u r a l g l o m e r u l a r findings may justify the p e r s i s t e n t p r o t e i n u r i a and m i c r o h e m a t u r i a in the siblings and perhaps predict the development of focal g l o m e r u l a r sclerosis.
C O E X I S T E N C E OF M I C R O S O M A L AND L I V E R CELL P L A S M A M E M B R A N E R E A C T I V I T Y F O R LKM (LIVER-KIDNEY MICROSOMAL) A N T I B O D Y P. Preda, M. Lenzi*, S. Melagrani, F. B. Bianchi* and G. Biagini I s t i t u t o di M i c r o s c o p i a Elettronica C l i n i c a ; * I s t i t u t o di P a t o l o g i a M e d i c a I; U n i v e r s i t a di B o l o g n a
Liver-Kidney
Microsomal
(LKM)
anti-