PMID- 16153223
OWN - NLM
STAT- MEDLINE
DCOM- 20051020
LR  - 20060718
IS  - 1464-4096 (Print)
IS  - 1464-4096 (Linking)
VI  - 96
IP  - 6
DP  - 2005 Oct
TI  - Familial multiple endocrine neoplasia type I: the urologist is first on the 
      scene.
PG  - 884-7
AB  - OBJECTIVE: To study the urological manifestations of familial multiple endocrine 
      neoplasia type 1 (MEN-1). PATIENTS AND METHODS: The study included 26 adults 
      (median age 38.5 years, range 18-80) from two unrelated MEN-1 pedigrees. In 15 of 
      the patients the diagnosis was confirmed by genetic analysis, while in the rest 
      the diagnosis was based on clinical criteria combined with genealogy data. 
      RESULTS: Urolithiasis associated with primary hyperparathyroidism was present in 
      65% of MEN-1 patients and in 77% of those who were symptomatic. In 68% of 
      patients complications of urolithiasis (renal/ureteric colic, urinary tract 
      infection) were the presenting clinical manifestations of MEN-1, whereas in 50% 
      they constituted the only clinical manifestation of the syndrome. The mean time 
      from the onset of symptoms of urolithiasis to the diagnosis of the 
      polyendocrinopathy was 17.2 years. Initial failure to recognize the presence of 
      MEN-1 in patients with primary hyperparathyroidism led to conservative 
      parathyroid surgery, with subsequent relapse of the hyperparathyroidism, 
      requiring re-operation. Serious renal morbidity included one case of pyonephrosis 
      necessitating nephrectomy. While urolithiasis was a cardinal clinical 
      manifestation of MEN-1, there was otherwise considerable phenotypic polymorphism, 
      even among patients bearing the same MEN1 gene mutation. CONCLUSION: In patients 
      with familial MEN-1 the complications of urolithiasis are the commonest 
      presenting clinical manifestations and the cause of significant morbidity. In the 
      presence of a family history of renal stones, appropriate investigations may lead 
      to the timely diagnosis of this important, albeit rare, disorder.
FAU - Christopoulos, Constantinos
AU  - Christopoulos C
AD  - First Department of Internal Medicine, A. Fleming General Hospital, Athens, 
      Greece.
FAU - Antoniou, Nikos
AU  - Antoniou N
FAU - Thempeyioti, Anastasia
AU  - Thempeyioti A
FAU - Calender, Alain
AU  - Calender A
FAU - Economopoulos, Panagiotis
AU  - Economopoulos P
LA  - eng
PT  - Journal Article
PL  - England
TA  - BJU Int
JT  - BJU international
JID - 100886721
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Colic/etiology
MH  - Humans
MH  - Hyperparathyroidism/etiology
MH  - Lithotripsy
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*complications/diagnosis
MH  - Pedigree
MH  - Pyelonephritis
MH  - Urinary Calculi/*etiology/genetics/therapy
EDAT- 2005/09/13 09:00
MHDA- 2005/10/21 09:00
CRDT- 2005/09/13 09:00
PHST- 2005/09/13 09:00 [pubmed]
PHST- 2005/10/21 09:00 [medline]
PHST- 2005/09/13 09:00 [entrez]
AID - BJU5731 [pii]
AID - 10.1111/j.1464-410X.2005.05731.x [doi]
PST - ppublish
SO  - BJU Int. 2005 Oct;96(6):884-7. doi: 10.1111/j.1464-410X.2005.05731.x.